Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7673706T>C , CM000679.2:g.7673706T>C	GRCh38
NC_000017.10:g.7577024T>C , CM000679.1:g.7577024T>C	GRCh37
NC_000017.9:g.7517749T>C	NCBI36
NG_017013.2:g.18845A>G , LRG_321:g.18845A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000503591.2:c.914A>G	ENSP00000426252.2:p.Lys305Arg
ENST00000508793.6:c.914A>G	ENSP00000424104.2:p.Lys305Arg
ENST00000509690.6:c.518A>G	ENSP00000425104.2:p.Lys173Arg
ENST00000514944.6:c.635A>G	ENSP00000423862.2:p.Lys212Arg
ENST00000604348.6:c.893A>G	ENSP00000473895.2:p.Lys298Arg
ENST00000269305.9:c.914A>G MANE Select	ENSP00000269305.4:p.Lys305Arg
ENST00000269305.8:c.914A>G	ENSP00000269305.4:p.Lys305Arg
ENST00000359597.8:c.914A>G	ENSP00000352610.4:p.Lys305Arg
ENST00000413465.6:c.782+475A>G	ENSP00000410739.2:n.782+475A>G
ENST00000420246.6:c.914A>G	ENSP00000391127.2:p.Lys305Arg
ENST00000445888.6:c.914A>G	ENSP00000391478.2:p.Lys305Arg
ENST00000455263.6:c.914A>G	ENSP00000398846.2:p.Lys305Arg
ENST00000504290.5:c.518A>G	ENSP00000484409.1:p.Lys173Arg
ENST00000504937.5:c.518A>G	ENSP00000481179.1:p.Lys173Arg
ENST00000509690.5:c.518A>G	ENSP00000425104.1:p.Lys173Arg
ENST00000510385.5:c.518A>G	ENSP00000478499.1:p.Lys173Arg
ENST00000610292.4:c.797A>G	ENSP00000478219.1:p.Lys266Arg
ENST00000610538.4:c.797A>G	ENSP00000480868.1:p.Lys266Arg
ENST00000610623.4:c.437A>G	ENSP00000477531.1:p.Lys146Arg
ENST00000615910.4:c.881A>G	ENSP00000482903.1:p.Lys294Arg
ENST00000617185.4:c.914A>G	ENSP00000482258.1:p.Lys305Arg
ENST00000618944.4:c.437A>G	ENSP00000481401.1:p.Lys146Arg
ENST00000619186.4:c.437A>G	ENSP00000484375.1:p.Lys146Arg
ENST00000619485.4:c.797A>G	ENSP00000482537.1:p.Lys266Arg
ENST00000620739.4:c.797A>G	ENSP00000481638.1:p.Lys266Arg
ENST00000622645.4:c.797A>G	ENSP00000482222.1:p.Lys266Arg
ENST00000635293.1:c.797A>G	ENSP00000488924.1:p.Lys266Arg
NM_000546.5:c.914A>G , LRG_321t1:c.914A>G	NP_000537.3:p.Lys305Arg
NM_001126112.2:c.914A>G , LRG_321t2:c.914A>G	NP_001119584.1:p.Lys305Arg
NM_001126113.2:c.914A>G , LRG_321t4:c.914A>G	NP_001119585.1:p.Lys305Arg
NM_001126114.2:c.914A>G , LRG_321t3:c.914A>G	NP_001119586.1:p.Lys305Arg
NM_001126115.1:c.518A>G , LRG_321t5:c.518A>G	NP_001119587.1:p.Lys173Arg
NM_001126116.1:c.518A>G , LRG_321t6:c.518A>G	NP_001119588.1:p.Lys173Arg
NM_001126117.1:c.518A>G , LRG_321t7:c.518A>G	NP_001119589.1:p.Lys173Arg
NM_001126118.1:c.797A>G , LRG_321t8:c.797A>G	NP_001119590.1:p.Lys266Arg
NM_001276695.1:c.797A>G	NP_001263624.1:p.Lys266Arg
NM_001276696.1:c.797A>G	NP_001263625.1:p.Lys266Arg
NM_001276697.1:c.437A>G	NP_001263626.1:p.Lys146Arg
NM_001276698.1:c.437A>G	NP_001263627.1:p.Lys146Arg
NM_001276699.1:c.437A>G	NP_001263628.1:p.Lys146Arg
NM_001276760.1:c.797A>G	NP_001263689.1:p.Lys266Arg
NM_001276761.1:c.797A>G	NP_001263690.1:p.Lys266Arg
NM_001276695.2:c.797A>G	NP_001263624.1:p.Lys266Arg
NM_001276696.2:c.797A>G	NP_001263625.1:p.Lys266Arg
NM_001276697.2:c.437A>G	NP_001263626.1:p.Lys146Arg
NM_001276698.2:c.437A>G	NP_001263627.1:p.Lys146Arg
NM_001276699.2:c.437A>G	NP_001263628.1:p.Lys146Arg
NM_001276760.2:c.797A>G	NP_001263689.1:p.Lys266Arg
NM_001276761.2:c.797A>G	NP_001263690.1:p.Lys266Arg
NM_000546.6:c.914A>G MANE Select	NP_000537.3:p.Lys305Arg
NM_001126112.3:c.914A>G	NP_001119584.1:p.Lys305Arg
NM_001126113.3:c.914A>G	NP_001119585.1:p.Lys305Arg
NM_001126114.3:c.914A>G	NP_001119586.1:p.Lys305Arg
NM_001126115.2:c.518A>G	NP_001119587.1:p.Lys173Arg
NM_001126116.2:c.518A>G	NP_001119588.1:p.Lys173Arg
NM_001126117.2:c.518A>G	NP_001119589.1:p.Lys173Arg
NM_001126118.2:c.797A>G	NP_001119590.1:p.Lys266Arg
NM_001276695.3:c.797A>G	NP_001263624.1:p.Lys266Arg
NM_001276696.3:c.797A>G	NP_001263625.1:p.Lys266Arg
NM_001276697.3:c.437A>G	NP_001263626.1:p.Lys146Arg
NM_001276698.3:c.437A>G	NP_001263627.1:p.Lys146Arg
NM_001276699.3:c.437A>G	NP_001263628.1:p.Lys146Arg
NM_001276760.3:c.797A>G	NP_001263689.1:p.Lys266Arg
NM_001276761.3:c.797A>G	NP_001263690.1:p.Lys266Arg

Linked Data

Genomic Alleles

Transcript Alleles