Canonical Allele Identifier: CA500142885

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 630989
• ClinVar RCV Id: RCV000777020 ; RCV001077603 ; RCV002535590
• dbSNP Id: rs80357326
• MyVariant Identifiers: chr17:g.41197734G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045717G>A , CM000679.2:g.43045717G>A	GRCh38
NC_000017.10:g.41197734G>A , CM000679.1:g.41197734G>A	GRCh37
NC_000017.9:g.38451260G>A	NCBI36
NG_005905.2:g.172267C>T , LRG_292:g.172267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5550C>T	ENSP00000417241.2:p.Asp1850=
ENST00000470026.6:c.5553C>T	ENSP00000419274.2:p.Asp1851=
ENST00000473961.6:c.5427C>T	ENSP00000420201.2:p.Asp1809=
ENST00000476777.6:c.5547C>T	ENSP00000417554.2:p.Asp1849=
ENST00000477152.6:c.5475C>T	ENSP00000419988.2:p.Asp1825=
ENST00000478531.6:c.2241C>T	ENSP00000420412.2:p.Asp747=
ENST00000489037.2:c.5475C>T	ENSP00000420781.2:p.Asp1825=
ENST00000493919.6:c.2103C>T	ENSP00000418819.2:p.Asp701=
ENST00000494123.6:c.5553C>T	ENSP00000419103.2:p.Asp1851=
ENST00000497488.2:c.4665C>T	ENSP00000418986.2:p.Asp1555=
ENST00000618469.2:c.5553C>T	ENSP00000478114.2:p.Asp1851=
ENST00000634433.2:c.5430C>T	ENSP00000489431.2:p.Asp1810=
ENST00000644379.2:c.5619C>T	ENSP00000496570.2:p.Asp1873=
ENST00000644555.2:c.2103C>T	ENSP00000494614.2:p.Asp701=
ENST00000652672.2:c.5412C>T	ENSP00000498906.2:p.Asp1804=
ENST00000484087.6:c.2115C>T	ENSP00000419481.2:p.Asp705=
ENST00000700081.1:n.1436C>T
ENST00000700082.1:n.917C>T
ENST00000357654.9:c.5553C>T MANE Select	ENSP00000350283.3:p.Asp1851=
ENST00000471181.7:c.5616C>T	ENSP00000418960.2:p.Asp1872=
ENST00000644379.1:c.1940C>T
ENST00000352993.7:c.2127C>T	ENSP00000312236.5:p.Asp709=
ENST00000357654.7:c.5553C>T	ENSP00000350283.3:p.Asp1851=
ENST00000461221.5:c.*5336C>T	ENSP00000418548.1:n.*5336C>T
ENST00000468300.5:c.*67C>T	ENSP00000417148.1:n.*67C>T
ENST00000471181.6:c.5616C>T	ENSP00000418960.2:p.Asp1872=
ENST00000491747.6:c.2241C>T	ENSP00000420705.2:p.Asp747=
ENST00000493795.5:c.5412C>T	ENSP00000418775.1:p.Asp1804=
ENST00000586385.5:c.483C>T	ENSP00000465818.1:p.Asp161=
ENST00000591534.5:c.1026C>T	ENSP00000467329.1:p.Asp342=
ENST00000591849.5:c.252C>T	ENSP00000465347.1:p.Asp84=
NM_007294.3:c.5553C>T , LRG_292t1:c.5553C>T	NP_009225.1:p.Asp1851=
NM_007297.3:c.5412C>T	NP_009228.2:p.Asp1804=
NM_007298.3:c.2241C>T	NP_009229.2:p.Asp747=
NM_007299.3:c.*67C>T	NP_009230.2:n.*67C>T
NM_007300.3:c.5616C>T	NP_009231.2:p.Asp1872=
NR_027676.1:n.5689C>T
NM_007294.4:c.5553C>T MANE Select	NP_009225.1:p.Asp1851=
NM_007297.4:c.5412C>T	NP_009228.2:p.Asp1804=
NM_007299.4:c.*67C>T	NP_009230.2:n.*67C>T
NM_007300.4:c.5616C>T	NP_009231.2:p.Asp1872=
NR_027676.2:n.5730C>T