Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993548A>T , CM000665.2:g.36993548A>T	GRCh38
NC_000003.11:g.37035039A>T , CM000665.1:g.37035039A>T	GRCh37
NC_000003.10:g.37010043A>T	NCBI36
NG_007109.2:g.5199A>T , LRG_216:g.5199A>T
NG_008418.1:g.4757T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.1A>T	ENSP00000416476.2:p.Met1Leu
ENST00000450420.6:c.1A>T	ENSP00000393006.2:p.Met1Leu
ENST00000456676.7:c.1A>T	ENSP00000416687.3:p.Met1Leu
ENST00000458009.6:c.1A>T	ENSP00000411066.2:p.Met1Leu
ENST00000616768.6:c.1A>T	ENSP00000480669.3:p.Met1Leu
ENST00000673673.2:c.1A>T	ENSP00000500979.2:p.Met1Leu
ENST00000231790.8:c.1A>T MANE Select	ENSP00000231790.3:p.Met1Leu
ENST00000432299.6:c.1A>T	ENSP00000416783.1:p.Met1Leu
ENST00000442249.6:n.16A>T
ENST00000673713.1:n.32A>T
ENST00000673715.1:c.1A>T	ENSP00000501301.1:p.Met1Leu
ENST00000673897.1:c.1A>T	ENSP00000501109.1:p.Met1Leu
ENST00000673899.1:c.1A>T	ENSP00000501030.1:p.Met1Leu
ENST00000673947.1:c.1A>T	ENSP00000501304.1:p.Met1Leu
ENST00000673972.1:c.1A>T	ENSP00000501281.1:p.Met1Leu
ENST00000674111.1:c.1A>T	ENSP00000501162.1:p.Met1Leu
ENST00000231790.6:c.1A>T	ENSP00000231790.2:p.Met1Leu
ENST00000432299.5:c.1A>T	ENSP00000416783.1:p.Met1Leu
ENST00000442249.5:c.1A>T	ENSP00000387511.1:p.Met1Leu
ENST00000454028.5:c.1A>T	ENSP00000392649.1:p.Met1Leu
ENST00000457004.5:c.1A>T	ENSP00000407773.1:p.Met1Leu
ENST00000536378.5:c.-632A>T	ENSP00000444286.2:n.-632A>T
NM_000249.3:c.1A>T , LRG_216t1:c.1A>T	NP_000240.1:p.Met1Leu
NM_001258271.1:c.1A>T	NP_001245200.1:p.Met1Leu
NM_001258273.1:c.-632A>T	NP_001245202.1:n.-632A>T
XM_005265161.1:c.1A>T	XP_005265218.1:p.Met1Leu
XM_005265164.1:c.-718A>T	XP_005265221.1:n.-718A>T
NM_001167617.2:c.-516A>T	NP_001161089.1:n.-516A>T
NM_001167618.2:c.-945A>T	NP_001161090.1:n.-945A>T
NM_001167619.2:c.-858A>T	NP_001161091.1:n.-858A>T
NM_001258274.2:c.-1095A>T	NP_001245203.1:n.-1095A>T
NM_001354615.1:c.-626A>T	NP_001341544.1:n.-626A>T
NM_001354616.1:c.-626A>T	NP_001341545.1:n.-626A>T
NM_001354617.1:c.-718A>T	NP_001341546.1:n.-718A>T
NM_001354618.1:c.-950A>T	NP_001341547.1:n.-950A>T
NM_001354619.1:c.-1074A>T	NP_001341548.1:n.-1074A>T
NM_001354620.1:c.-284A>T	NP_001341549.1:n.-284A>T
NM_001354621.1:c.-1043A>T	NP_001341550.1:n.-1043A>T
NM_001354622.1:c.-1156A>T	NP_001341551.1:n.-1156A>T
NM_001354623.1:c.-1065A>T	NP_001341552.1:n.-1065A>T
NM_001354624.1:c.-826A>T	NP_001341553.1:n.-826A>T
NM_001354625.1:c.-724A>T	NP_001341554.1:n.-724A>T
NM_001354626.1:c.-821A>T	NP_001341555.1:n.-821A>T
NM_001354627.1:c.-1053A>T	NP_001341556.1:n.-1053A>T
NM_001354628.1:c.1A>T	NP_001341557.1:p.Met1Leu
NM_001354629.1:c.1A>T	NP_001341558.1:p.Met1Leu
NM_001354630.1:c.1A>T	NP_001341559.1:p.Met1Leu
XM_005265161.2:c.1A>T	XP_005265218.1:p.Met1Leu
XM_017006450.2:c.-811A>T	XP_016861939.1:n.-811A>T
NM_000249.4:c.1A>T MANE Select	NP_000240.1:p.Met1Leu
NM_001167617.3:c.-516A>T	NP_001161089.1:n.-516A>T
NM_001167618.3:c.-945A>T	NP_001161090.1:n.-945A>T
NM_001167619.3:c.-858A>T	NP_001161091.1:n.-858A>T
NM_001258271.2:c.1A>T	NP_001245200.1:p.Met1Leu
NM_001258273.2:c.-632A>T	NP_001245202.1:n.-632A>T
NM_001258274.3:c.-1095A>T	NP_001245203.1:n.-1095A>T
NM_001354615.2:c.-626A>T	NP_001341544.1:n.-626A>T
NM_001354616.2:c.-626A>T	NP_001341545.1:n.-626A>T
NM_001354617.2:c.-718A>T	NP_001341546.1:n.-718A>T
NM_001354618.2:c.-950A>T	NP_001341547.1:n.-950A>T
NM_001354619.2:c.-1074A>T	NP_001341548.1:n.-1074A>T
NM_001354620.2:c.-284A>T	NP_001341549.1:n.-284A>T
NM_001354621.2:c.-1043A>T	NP_001341550.1:n.-1043A>T
NM_001354622.2:c.-1156A>T	NP_001341551.1:n.-1156A>T
NM_001354623.2:c.-1065A>T	NP_001341552.1:n.-1065A>T
NM_001354624.2:c.-826A>T	NP_001341553.1:n.-826A>T
NM_001354625.2:c.-724A>T	NP_001341554.1:n.-724A>T
NM_001354626.2:c.-821A>T	NP_001341555.1:n.-821A>T
NM_001354627.2:c.-1053A>T	NP_001341556.1:n.-1053A>T
NM_001354628.2:c.1A>T	NP_001341557.1:p.Met1Leu
NM_001354629.2:c.1A>T	NP_001341558.1:p.Met1Leu
NM_001354630.2:c.1A>T	NP_001341559.1:p.Met1Leu

Linked Data

Genomic Alleles

Transcript Alleles