Canonical Allele Identifier: CA10590683

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868415
• ClinVar RCV Id: RCV001077312
• dbSNP Id: rs786201945
• MyVariant Identifiers: chr17:g.41201148G>T (hg19) ; chr17:g.43049131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049131G>T , CM000679.2:g.43049131G>T	GRCh38
NC_000017.10:g.41201148G>T , CM000679.1:g.41201148G>T	GRCh37
NC_000017.9:g.38454674G>T	NCBI36
NG_005905.2:g.168853C>A , LRG_292:g.168853C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5393C>A	ENSP00000417241.2:p.Thr1798Asn
ENST00000470026.6:c.5396C>A	ENSP00000419274.2:p.Thr1799Asn
ENST00000473961.6:c.5270C>A	ENSP00000420201.2:p.Thr1757Asn
ENST00000476777.6:c.5390C>A	ENSP00000417554.2:p.Thr1797Asn
ENST00000477152.6:c.5318C>A	ENSP00000419988.2:p.Thr1773Asn
ENST00000478531.6:c.2084C>A	ENSP00000420412.2:p.Thr695Asn
ENST00000489037.2:c.5318C>A	ENSP00000420781.2:p.Thr1773Asn
ENST00000493919.6:c.1946C>A	ENSP00000418819.2:p.Thr649Asn
ENST00000494123.6:c.5396C>A	ENSP00000419103.2:p.Thr1799Asn
ENST00000497488.2:c.4508C>A	ENSP00000418986.2:p.Thr1503Asn
ENST00000618469.2:c.5396C>A	ENSP00000478114.2:p.Thr1799Asn
ENST00000634433.2:c.5273C>A	ENSP00000489431.2:p.Thr1758Asn
ENST00000644379.2:c.5462C>A	ENSP00000496570.2:p.Thr1821Asn
ENST00000644555.2:c.1946C>A	ENSP00000494614.2:p.Thr649Asn
ENST00000652672.2:c.5255C>A	ENSP00000498906.2:p.Thr1752Asn
ENST00000484087.6:c.1958C>A	ENSP00000419481.2:p.Thr653Asn
ENST00000700081.1:n.1279C>A
ENST00000357654.9:c.5396C>A MANE Select	ENSP00000350283.3:p.Thr1799Asn
ENST00000471181.7:c.5459C>A	ENSP00000418960.2:p.Thr1820Asn
ENST00000644379.1:c.1783C>A
ENST00000352993.7:c.1970C>A	ENSP00000312236.5:p.Thr657Asn
ENST00000357654.7:c.5396C>A	ENSP00000350283.3:p.Thr1799Asn
ENST00000461221.5:c.*5179C>A	ENSP00000418548.1:n.*5179C>A
ENST00000468300.5:c.2021-1428C>A	ENSP00000417148.1:n.2021-1428C>A
ENST00000471181.6:c.5459C>A	ENSP00000418960.2:p.Thr1820Asn
ENST00000491747.6:c.2084C>A	ENSP00000420705.2:p.Thr695Asn
ENST00000493795.5:c.5255C>A	ENSP00000418775.1:p.Thr1752Asn
ENST00000586385.5:c.326C>A	ENSP00000465818.1:p.Thr109Asn
ENST00000591534.5:c.869C>A	ENSP00000467329.1:p.Thr290Asn
ENST00000591849.5:c.95C>A	ENSP00000465347.1:p.Thr32Asn
NM_007294.3:c.5396C>A , LRG_292t1:c.5396C>A	NP_009225.1:p.Thr1799Asn
NM_007297.3:c.5255C>A	NP_009228.2:p.Thr1752Asn
NM_007298.3:c.2084C>A	NP_009229.2:p.Thr695Asn
NM_007299.3:c.2021-1428C>A	NP_009230.2:n.2021-1428C>A
NM_007300.3:c.5459C>A	NP_009231.2:p.Thr1820Asn
NR_027676.1:n.5532C>A
NM_007294.4:c.5396C>A MANE Select	NP_009225.1:p.Thr1799Asn
NM_007297.4:c.5255C>A	NP_009228.2:p.Thr1752Asn
NM_007299.4:c.2021-1428C>A	NP_009230.2:n.2021-1428C>A
NM_007300.4:c.5459C>A	NP_009231.2:p.Thr1820Asn
NR_027676.2:n.5573C>A