Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44428398T>G , CM000682.2:g.44428398T>G	GRCh38
NC_000020.10:g.43057038T>G , CM000682.1:g.43057038T>G	GRCh37
NC_000020.9:g.42490452T>G	NCBI36
NG_009818.1:g.77598T>G , LRG_483:g.77598T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316673.9:c.1127T>G MANE Select	ENSP00000315180.4:p.Met376Arg
ENST00000316099.10:c.1193T>G	ENSP00000312987.3:p.Met398Arg
ENST00000316099.9:c.1193T>G	ENSP00000312987.3:p.Met398Arg
ENST00000316099.8:c.1193T>G	ENSP00000312987.3:p.Met398Arg
ENST00000316673.8:c.1127T>G	ENSP00000315180.4:p.Met376Arg
ENST00000372920.1:c.*960T>G	ENSP00000362011.1:n.*960T>G
ENST00000415691.2:c.1193T>G	ENSP00000412111.1:p.Met398Arg
ENST00000457232.5:c.1127T>G	ENSP00000396216.1:p.Met376Arg
ENST00000619550.4:c.1118T>G	ENSP00000481331.1:p.Met373Arg
NM_000457.4:c.1193T>G , LRG_483t2:c.1193T>G	NP_000448.3:p.Met398Arg
NM_001030003.2:c.1127T>G	NP_001025174.1:p.Met376Arg
NM_001258355.1:c.1172T>G	NP_001245284.1:p.Met391Arg
NM_001287182.1:c.1118T>G	NP_001274111.1:p.Met373Arg
NM_001287183.1:c.1118T>G , LRG_483t3:c.1118T>G	NP_001274112.1:p.Met373Arg
NM_175914.4:c.1127T>G , LRG_483t1:c.1127T>G	NP_787110.2:p.Met376Arg
NM_178849.2:c.1193T>G	NP_849180.1:p.Met398Arg
XM_005260407.2:c.1310T>G	XP_005260464.1:p.Met437Arg
XM_011528797.1:c.1241T>G	XP_011527099.1:p.Met414Arg
XM_011528798.1:c.1241T>G	XP_011527100.1:p.Met414Arg
XM_005260407.4:c.1310T>G	XP_005260464.1:p.Met437Arg
NM_001030003.3:c.1127T>G	NP_001025174.1:p.Met376Arg
NM_001258355.2:c.1172T>G	NP_001245284.1:p.Met391Arg
NM_001287182.2:c.1118T>G	NP_001274111.1:p.Met373Arg
NM_178849.3:c.1193T>G	NP_849180.1:p.Met398Arg
NM_000457.5:c.1193T>G	NP_000448.3:p.Met398Arg
NM_000457.6:c.1193T>G	NP_000448.3:p.Met398Arg
NM_001287183.2:c.1118T>G	NP_001274112.1:p.Met373Arg
NM_175914.5:c.1127T>G MANE Select	NP_787110.2:p.Met376Arg

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

Transcript Alleles