Canonical Allele Identifier: CA10590653

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 628196
• ClinVar RCV Id: RCV000772536 ; RCV001045593 ; RCV001077368
• dbSNP Id: rs80357149
• gnomAD v4: 17-43047702-C-A
• MyVariant Identifiers: chr17:g.41199719C>A (hg19) ; chr17:g.43047702C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047702C>A , CM000679.2:g.43047702C>A	GRCh38
NC_000017.10:g.41199719C>A , CM000679.1:g.41199719C>A	GRCh37
NC_000017.9:g.38453245C>A	NCBI36
NG_005905.2:g.170282G>T , LRG_292:g.170282G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5405G>T	ENSP00000417241.2:p.Gly1802Val
ENST00000470026.6:c.5408G>T	ENSP00000419274.2:p.Gly1803Val
ENST00000473961.6:c.5282G>T	ENSP00000420201.2:p.Gly1761Val
ENST00000476777.6:c.5402G>T	ENSP00000417554.2:p.Gly1801Val
ENST00000477152.6:c.5330G>T	ENSP00000419988.2:p.Gly1777Val
ENST00000478531.6:c.2096G>T	ENSP00000420412.2:p.Gly699Val
ENST00000489037.2:c.5330G>T	ENSP00000420781.2:p.Gly1777Val
ENST00000493919.6:c.1958G>T	ENSP00000418819.2:p.Gly653Val
ENST00000494123.6:c.5408G>T	ENSP00000419103.2:p.Gly1803Val
ENST00000497488.2:c.4520G>T	ENSP00000418986.2:p.Gly1507Val
ENST00000618469.2:c.5408G>T	ENSP00000478114.2:p.Gly1803Val
ENST00000634433.2:c.5285G>T	ENSP00000489431.2:p.Gly1762Val
ENST00000644379.2:c.5474G>T	ENSP00000496570.2:p.Gly1825Val
ENST00000644555.2:c.1958G>T	ENSP00000494614.2:p.Gly653Val
ENST00000652672.2:c.5267G>T	ENSP00000498906.2:p.Gly1756Val
ENST00000484087.6:c.1970G>T	ENSP00000419481.2:p.Gly657Val
ENST00000700081.1:n.1291G>T
ENST00000700082.1:n.772G>T
ENST00000357654.9:c.5408G>T MANE Select	ENSP00000350283.3:p.Gly1803Val
ENST00000471181.7:c.5471G>T	ENSP00000418960.2:p.Gly1824Val
ENST00000644379.1:c.1795G>T
ENST00000352993.7:c.1982G>T	ENSP00000312236.5:p.Gly661Val
ENST00000357654.7:c.5408G>T	ENSP00000350283.3:p.Gly1803Val
ENST00000461221.5:c.*5191G>T	ENSP00000418548.1:n.*5191G>T
ENST00000468300.5:c.2022G>T	ENSP00000417148.1:p.Gly674=
ENST00000471181.6:c.5471G>T	ENSP00000418960.2:p.Gly1824Val
ENST00000491747.6:c.2096G>T	ENSP00000420705.2:p.Gly699Val
ENST00000493795.5:c.5267G>T	ENSP00000418775.1:p.Gly1756Val
ENST00000586385.5:c.338G>T	ENSP00000465818.1:p.Gly113Val
ENST00000591534.5:c.881G>T	ENSP00000467329.1:p.Gly294Val
ENST00000591849.5:c.107G>T	ENSP00000465347.1:p.Gly36Val
NM_007294.3:c.5408G>T , LRG_292t1:c.5408G>T	NP_009225.1:p.Gly1803Val
NM_007297.3:c.5267G>T	NP_009228.2:p.Gly1756Val
NM_007298.3:c.2096G>T	NP_009229.2:p.Gly699Val
NM_007299.3:c.2022G>T	NP_009230.2:p.Gly674=
NM_007300.3:c.5471G>T	NP_009231.2:p.Gly1824Val
NR_027676.1:n.5544G>T
NM_007294.4:c.5408G>T MANE Select	NP_009225.1:p.Gly1803Val
NM_007297.4:c.5267G>T	NP_009228.2:p.Gly1756Val
NM_007299.4:c.2022G>T	NP_009230.2:p.Gly674=
NM_007300.4:c.5471G>T	NP_009231.2:p.Gly1824Val
NR_027676.2:n.5585G>T