Canonical Allele Identifier: CA10590538

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865516
• ClinVar RCV Id: RCV001072952
• dbSNP Id: rs2050984571
• gnomAD v4: 17-43047670-C-T
• MyVariant Identifiers: chr17:g.41199687C>T (hg19) ; chr17:g.43047670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047670C>T , CM000679.2:g.43047670C>T	GRCh38
NC_000017.10:g.41199687C>T , CM000679.1:g.41199687C>T	GRCh37
NC_000017.9:g.38453213C>T	NCBI36
NG_005905.2:g.170314G>A , LRG_292:g.170314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5437G>A	ENSP00000417241.2:p.Ala1813Thr
ENST00000470026.6:c.5440G>A	ENSP00000419274.2:p.Ala1814Thr
ENST00000473961.6:c.5314G>A	ENSP00000420201.2:p.Ala1772Thr
ENST00000476777.6:c.5434G>A	ENSP00000417554.2:p.Ala1812Thr
ENST00000477152.6:c.5362G>A	ENSP00000419988.2:p.Ala1788Thr
ENST00000478531.6:c.2128G>A	ENSP00000420412.2:p.Ala710Thr
ENST00000489037.2:c.5362G>A	ENSP00000420781.2:p.Ala1788Thr
ENST00000493919.6:c.1990G>A	ENSP00000418819.2:p.Ala664Thr
ENST00000494123.6:c.5440G>A	ENSP00000419103.2:p.Ala1814Thr
ENST00000497488.2:c.4552G>A	ENSP00000418986.2:p.Ala1518Thr
ENST00000618469.2:c.5440G>A	ENSP00000478114.2:p.Ala1814Thr
ENST00000634433.2:c.5317G>A	ENSP00000489431.2:p.Ala1773Thr
ENST00000644379.2:c.5506G>A	ENSP00000496570.2:p.Ala1836Thr
ENST00000644555.2:c.1990G>A	ENSP00000494614.2:p.Ala664Thr
ENST00000652672.2:c.5299G>A	ENSP00000498906.2:p.Ala1767Thr
ENST00000484087.6:c.2002G>A	ENSP00000419481.2:p.Ala668Thr
ENST00000700081.1:n.1323G>A
ENST00000700082.1:n.804G>A
ENST00000357654.9:c.5440G>A MANE Select	ENSP00000350283.3:p.Ala1814Thr
ENST00000471181.7:c.5503G>A	ENSP00000418960.2:p.Ala1835Thr
ENST00000644379.1:c.1827G>A
ENST00000352993.7:c.2014G>A	ENSP00000312236.5:p.Ala672Thr
ENST00000357654.7:c.5440G>A	ENSP00000350283.3:p.Ala1814Thr
ENST00000461221.5:c.*5223G>A	ENSP00000418548.1:n.*5223G>A
ENST00000468300.5:c.2054G>A	ENSP00000417148.1:p.Cys685Tyr
ENST00000471181.6:c.5503G>A	ENSP00000418960.2:p.Ala1835Thr
ENST00000491747.6:c.2128G>A	ENSP00000420705.2:p.Ala710Thr
ENST00000493795.5:c.5299G>A	ENSP00000418775.1:p.Ala1767Thr
ENST00000586385.5:c.370G>A	ENSP00000465818.1:p.Ala124Thr
ENST00000591534.5:c.913G>A	ENSP00000467329.1:p.Ala305Thr
ENST00000591849.5:c.139G>A	ENSP00000465347.1:p.Ala47Thr
NM_007294.3:c.5440G>A , LRG_292t1:c.5440G>A	NP_009225.1:p.Ala1814Thr
NM_007297.3:c.5299G>A	NP_009228.2:p.Ala1767Thr
NM_007298.3:c.2128G>A	NP_009229.2:p.Ala710Thr
NM_007299.3:c.2054G>A	NP_009230.2:p.Cys685Tyr
NM_007300.3:c.5503G>A	NP_009231.2:p.Ala1835Thr
NR_027676.1:n.5576G>A
NM_007294.4:c.5440G>A MANE Select	NP_009225.1:p.Ala1814Thr
NM_007297.4:c.5299G>A	NP_009228.2:p.Ala1767Thr
NM_007299.4:c.2054G>A	NP_009230.2:p.Cys685Tyr
NM_007300.4:c.5503G>A	NP_009231.2:p.Ala1835Thr
NR_027676.2:n.5617G>A