Canonical Allele Identifier: CA10590547

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867390
• ClinVar RCV Id: RCV001076068
• dbSNP Id: rs1555574715
• MyVariant Identifiers: chr17:g.41199689T>G (hg19) ; chr17:g.43047672T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047672T>G , CM000679.2:g.43047672T>G	GRCh38
NC_000017.10:g.41199689T>G , CM000679.1:g.41199689T>G	GRCh37
NC_000017.9:g.38453215T>G	NCBI36
NG_005905.2:g.170312A>C , LRG_292:g.170312A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5435A>C	ENSP00000417241.2:p.Asp1812Ala
ENST00000470026.6:c.5438A>C	ENSP00000419274.2:p.Asp1813Ala
ENST00000473961.6:c.5312A>C	ENSP00000420201.2:p.Asp1771Ala
ENST00000476777.6:c.5432A>C	ENSP00000417554.2:p.Asp1811Ala
ENST00000477152.6:c.5360A>C	ENSP00000419988.2:p.Asp1787Ala
ENST00000478531.6:c.2126A>C	ENSP00000420412.2:p.Asp709Ala
ENST00000489037.2:c.5360A>C	ENSP00000420781.2:p.Asp1787Ala
ENST00000493919.6:c.1988A>C	ENSP00000418819.2:p.Asp663Ala
ENST00000494123.6:c.5438A>C	ENSP00000419103.2:p.Asp1813Ala
ENST00000497488.2:c.4550A>C	ENSP00000418986.2:p.Asp1517Ala
ENST00000618469.2:c.5438A>C	ENSP00000478114.2:p.Asp1813Ala
ENST00000634433.2:c.5315A>C	ENSP00000489431.2:p.Asp1772Ala
ENST00000644379.2:c.5504A>C	ENSP00000496570.2:p.Asp1835Ala
ENST00000644555.2:c.1988A>C	ENSP00000494614.2:p.Asp663Ala
ENST00000652672.2:c.5297A>C	ENSP00000498906.2:p.Asp1766Ala
ENST00000484087.6:c.2000A>C	ENSP00000419481.2:p.Asp667Ala
ENST00000700081.1:n.1321A>C
ENST00000700082.1:n.802A>C
ENST00000357654.9:c.5438A>C MANE Select	ENSP00000350283.3:p.Asp1813Ala
ENST00000471181.7:c.5501A>C	ENSP00000418960.2:p.Asp1834Ala
ENST00000644379.1:c.1825A>C
ENST00000352993.7:c.2012A>C	ENSP00000312236.5:p.Asp671Ala
ENST00000357654.7:c.5438A>C	ENSP00000350283.3:p.Asp1813Ala
ENST00000461221.5:c.*5221A>C	ENSP00000418548.1:n.*5221A>C
ENST00000468300.5:c.2052A>C	ENSP00000417148.1:p.Arg684Ser
ENST00000471181.6:c.5501A>C	ENSP00000418960.2:p.Asp1834Ala
ENST00000491747.6:c.2126A>C	ENSP00000420705.2:p.Asp709Ala
ENST00000493795.5:c.5297A>C	ENSP00000418775.1:p.Asp1766Ala
ENST00000586385.5:c.368A>C	ENSP00000465818.1:p.Asp123Ala
ENST00000591534.5:c.911A>C	ENSP00000467329.1:p.Asp304Ala
ENST00000591849.5:c.137A>C	ENSP00000465347.1:p.Asp46Ala
NM_007294.3:c.5438A>C , LRG_292t1:c.5438A>C	NP_009225.1:p.Asp1813Ala
NM_007297.3:c.5297A>C	NP_009228.2:p.Asp1766Ala
NM_007298.3:c.2126A>C	NP_009229.2:p.Asp709Ala
NM_007299.3:c.2052A>C	NP_009230.2:p.Arg684Ser
NM_007300.3:c.5501A>C	NP_009231.2:p.Asp1834Ala
NR_027676.1:n.5574A>C
NM_007294.4:c.5438A>C MANE Select	NP_009225.1:p.Asp1813Ala
NM_007297.4:c.5297A>C	NP_009228.2:p.Asp1766Ala
NM_007299.4:c.2052A>C	NP_009230.2:p.Arg684Ser
NM_007300.4:c.5501A>C	NP_009231.2:p.Asp1834Ala
NR_027676.2:n.5615A>C