Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[3243405C>T;3254626C>G] , CM000678.2:g.[3243405C>T;3254626C>G]	GRCh38
NC_000016.9:g.[3293405C>T;3304626C>G] , CM000678.1:g.[3293405C>T;3304626C>G]	GRCh37
NC_000016.8:g.[3233406C>T;3244627C>G]	NCBI36
NG_007871.1:g.[7002G>C;18223G>A] , LRG_190:g.[7002G>C;18223G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.[442G>C;2082G>A] MANE Select	ENSP00000219596.1:p.[Glu148Gln;Met694Ile]
ENST00000219596.5:c.[442G>C;2082G>A]	ENSP00000219596.1:p.[Glu148Gln;Met694Ile]
ENST00000339854.8:c.[277+1685G>C;1542G>A]	ENSP00000339639.4:p.Met514Ile
ENST00000536379.5:c.[277+1685G>C;1449G>A]	ENSP00000445079.1:p.Met483Ile
ENST00000536980.5:c.[277+1685G>C;*358G>A]	ENSP00000444178.1:n.[277+1685G>C;*358G>A]
ENST00000537682.5:c.[442G>C;*358G>A]	ENSP00000438611.1:[p.Glu148Gln;n.*358G>A]
ENST00000538326.5:c.[442G>C;*707G>A]	ENSP00000437486.1:[p.Glu148Gln;n.*707G>A]
ENST00000539145.5:c.[277+1685G>C;1003G>A]	ENSP00000444471.1:n.[277+1685G>C;1003G>A]
ENST00000541159.5:c.[277+1685G>C;1624G>A]	ENSP00000438711.1:n.[277+1685G>C;1624G>A]
ENST00000542898.5:c.[442G>C;*358G>A]	ENSP00000444615.1:[p.Glu148Gln;n.*358G>A]
ENST00000570511.5:c.[442G>C;1487G>A]	ENSP00000458312.1:[p.Glu148Gln;n.1487G>A]
ENST00000572244.5:c.[277+1685G>C;772G>A]	ENSP00000461186.1:n.[277+1685G>C;772G>A]
ENST00000574583.5:c.[277+1685G>C;854G>A]	ENSP00000460269.1:n.[277+1685G>C;854G>A]
ENST00000576315.5:c.[277+1685G>C;887G>A]	ENSP00000460551.1:n.[277+1685G>C;887G>A]
ENST00000621655.1:c.[277+1685G>C;1619G>A]	ENSP00000481436.1:n.[277+1685G>C;1619G>A]
NM_000243.2:c.[442G>C;2082G>A] , LRG_190t1:c.[442G>C;2082G>A]	NP_000234.1:p.[Glu148Gln;Met694Ile]
NM_001198536.1:c.[277+1685G>C;*286G>A]	NP_001185465.1:n.[277+1685G>C;*286G>A]
XM_017023236.2:c.[442G>C;2079G>A]	XP_016878725.1:p.[Glu148Gln;Met693Ile]
NM_000243.3:c.[442G>C;2082G>A] MANE Select	NP_000234.1:p.[Glu148Gln;Met694Ile]
NM_001198536.2:c.[277+1685G>C;*286G>A]	NP_001185465.2:n.[277+1685G>C;*286G>A]

Linked Data

Genomic Alleles

Transcript Alleles