Canonical Allele Identifier: CA10590549

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479266
• ClinVar RCV Id: RCV000564582 ; RCV001076067
• dbSNP Id: rs1303996018
• MyVariant Identifiers: chr17:g.41199690C>A (hg19) ; chr17:g.43047673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047673C>A , CM000679.2:g.43047673C>A	GRCh38
NC_000017.10:g.41199690C>A , CM000679.1:g.41199690C>A	GRCh37
NC_000017.9:g.38453216C>A	NCBI36
NG_005905.2:g.170311G>T , LRG_292:g.170311G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5434G>T	ENSP00000417241.2:p.Asp1812Tyr
ENST00000470026.6:c.5437G>T	ENSP00000419274.2:p.Asp1813Tyr
ENST00000473961.6:c.5311G>T	ENSP00000420201.2:p.Asp1771Tyr
ENST00000476777.6:c.5431G>T	ENSP00000417554.2:p.Asp1811Tyr
ENST00000477152.6:c.5359G>T	ENSP00000419988.2:p.Asp1787Tyr
ENST00000478531.6:c.2125G>T	ENSP00000420412.2:p.Asp709Tyr
ENST00000489037.2:c.5359G>T	ENSP00000420781.2:p.Asp1787Tyr
ENST00000493919.6:c.1987G>T	ENSP00000418819.2:p.Asp663Tyr
ENST00000494123.6:c.5437G>T	ENSP00000419103.2:p.Asp1813Tyr
ENST00000497488.2:c.4549G>T	ENSP00000418986.2:p.Asp1517Tyr
ENST00000618469.2:c.5437G>T	ENSP00000478114.2:p.Asp1813Tyr
ENST00000634433.2:c.5314G>T	ENSP00000489431.2:p.Asp1772Tyr
ENST00000644379.2:c.5503G>T	ENSP00000496570.2:p.Asp1835Tyr
ENST00000644555.2:c.1987G>T	ENSP00000494614.2:p.Asp663Tyr
ENST00000652672.2:c.5296G>T	ENSP00000498906.2:p.Asp1766Tyr
ENST00000484087.6:c.1999G>T	ENSP00000419481.2:p.Asp667Tyr
ENST00000700081.1:n.1320G>T
ENST00000700082.1:n.801G>T
ENST00000357654.9:c.5437G>T MANE Select	ENSP00000350283.3:p.Asp1813Tyr
ENST00000471181.7:c.5500G>T	ENSP00000418960.2:p.Asp1834Tyr
ENST00000644379.1:c.1824G>T
ENST00000352993.7:c.2011G>T	ENSP00000312236.5:p.Asp671Tyr
ENST00000357654.7:c.5437G>T	ENSP00000350283.3:p.Asp1813Tyr
ENST00000461221.5:c.*5220G>T	ENSP00000418548.1:n.*5220G>T
ENST00000468300.5:c.2051G>T	ENSP00000417148.1:p.Arg684Ile
ENST00000471181.6:c.5500G>T	ENSP00000418960.2:p.Asp1834Tyr
ENST00000491747.6:c.2125G>T	ENSP00000420705.2:p.Asp709Tyr
ENST00000493795.5:c.5296G>T	ENSP00000418775.1:p.Asp1766Tyr
ENST00000586385.5:c.367G>T	ENSP00000465818.1:p.Asp123Tyr
ENST00000591534.5:c.910G>T	ENSP00000467329.1:p.Asp304Tyr
ENST00000591849.5:c.136G>T	ENSP00000465347.1:p.Asp46Tyr
NM_007294.3:c.5437G>T , LRG_292t1:c.5437G>T	NP_009225.1:p.Asp1813Tyr
NM_007297.3:c.5296G>T	NP_009228.2:p.Asp1766Tyr
NM_007298.3:c.2125G>T	NP_009229.2:p.Asp709Tyr
NM_007299.3:c.2051G>T	NP_009230.2:p.Arg684Ile
NM_007300.3:c.5500G>T	NP_009231.2:p.Asp1834Tyr
NR_027676.1:n.5573G>T
NM_007294.4:c.5437G>T MANE Select	NP_009225.1:p.Asp1813Tyr
NM_007297.4:c.5296G>T	NP_009228.2:p.Asp1766Tyr
NM_007299.4:c.2051G>T	NP_009230.2:p.Arg684Ile
NM_007300.4:c.5500G>T	NP_009231.2:p.Asp1834Tyr
NR_027676.2:n.5614G>T