Canonical Allele Identifier: CA10590349

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 409329
• ClinVar RCV Id: RCV000463014 ; RCV001076309 ; RCV002348317
• dbSNP Id: rs1060502342
• gnomAD v4: 17-43045788-A-C
• MyVariant Identifiers: chr17:g.41197805A>C (hg19) ; chr17:g.43045788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045788A>C , CM000679.2:g.43045788A>C	GRCh38
NC_000017.10:g.41197805A>C , CM000679.1:g.41197805A>C	GRCh37
NC_000017.9:g.38451331A>C	NCBI36
NG_005905.2:g.172196T>G , LRG_292:g.172196T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5479T>G	ENSP00000417241.2:p.Cys1827Gly
ENST00000470026.6:c.5482T>G	ENSP00000419274.2:p.Cys1828Gly
ENST00000473961.6:c.5356T>G	ENSP00000420201.2:p.Cys1786Gly
ENST00000476777.6:c.5476T>G	ENSP00000417554.2:p.Cys1826Gly
ENST00000477152.6:c.5404T>G	ENSP00000419988.2:p.Cys1802Gly
ENST00000478531.6:c.2170T>G	ENSP00000420412.2:p.Cys724Gly
ENST00000489037.2:c.5404T>G	ENSP00000420781.2:p.Cys1802Gly
ENST00000493919.6:c.2032T>G	ENSP00000418819.2:p.Cys678Gly
ENST00000494123.6:c.5482T>G	ENSP00000419103.2:p.Cys1828Gly
ENST00000497488.2:c.4594T>G	ENSP00000418986.2:p.Cys1532Gly
ENST00000618469.2:c.5482T>G	ENSP00000478114.2:p.Cys1828Gly
ENST00000634433.2:c.5359T>G	ENSP00000489431.2:p.Cys1787Gly
ENST00000644379.2:c.5548T>G	ENSP00000496570.2:p.Cys1850Gly
ENST00000644555.2:c.2032T>G	ENSP00000494614.2:p.Cys678Gly
ENST00000652672.2:c.5341T>G	ENSP00000498906.2:p.Cys1781Gly
ENST00000484087.6:c.2044T>G	ENSP00000419481.2:p.Cys682Gly
ENST00000700081.1:n.1365T>G
ENST00000700082.1:n.846T>G
ENST00000357654.9:c.5482T>G MANE Select	ENSP00000350283.3:p.Cys1828Gly
ENST00000471181.7:c.5545T>G	ENSP00000418960.2:p.Cys1849Gly
ENST00000644379.1:c.1869T>G
ENST00000352993.7:c.2056T>G	ENSP00000312236.5:p.Cys686Gly
ENST00000357654.7:c.5482T>G	ENSP00000350283.3:p.Cys1828Gly
ENST00000461221.5:c.*5265T>G	ENSP00000418548.1:n.*5265T>G
ENST00000468300.5:c.2096T>G	ENSP00000417148.1:p.Val699Gly
ENST00000471181.6:c.5545T>G	ENSP00000418960.2:p.Cys1849Gly
ENST00000491747.6:c.2170T>G	ENSP00000420705.2:p.Cys724Gly
ENST00000493795.5:c.5341T>G	ENSP00000418775.1:p.Cys1781Gly
ENST00000586385.5:c.412T>G	ENSP00000465818.1:p.Cys138Gly
ENST00000591534.5:c.955T>G	ENSP00000467329.1:p.Cys319Gly
ENST00000591849.5:c.181T>G	ENSP00000465347.1:p.Cys61Gly
NM_007294.3:c.5482T>G , LRG_292t1:c.5482T>G	NP_009225.1:p.Cys1828Gly
NM_007297.3:c.5341T>G	NP_009228.2:p.Cys1781Gly
NM_007298.3:c.2170T>G	NP_009229.2:p.Cys724Gly
NM_007299.3:c.2096T>G	NP_009230.2:p.Val699Gly
NM_007300.3:c.5545T>G	NP_009231.2:p.Cys1849Gly
NR_027676.1:n.5618T>G
NM_007294.4:c.5482T>G MANE Select	NP_009225.1:p.Cys1828Gly
NM_007297.4:c.5341T>G	NP_009228.2:p.Cys1781Gly
NM_007299.4:c.2096T>G	NP_009230.2:p.Val699Gly
NM_007300.4:c.5545T>G	NP_009231.2:p.Cys1849Gly
NR_027676.2:n.5659T>G