Canonical Allele Identifier: CA10580519

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 232619
• ClinVar RCV Id: RCV000216843 ; RCV000661326
• dbSNP Id: rs876659878
• MyVariant Identifiers: chr17:g.41228557C>A (hg19) ; chr17:g.43076540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076540C>A , CM000679.2:g.43076540C>A	GRCh38
NC_000017.10:g.41228557C>A , CM000679.1:g.41228557C>A	GRCh37
NC_000017.9:g.38482083C>A	NCBI36
NG_005905.2:g.141444G>T , LRG_292:g.141444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4429G>T	ENSP00000417241.2:p.Glu1477Ter
ENST00000470026.6:c.4432G>T	ENSP00000419274.2:p.Glu1478Ter
ENST00000473961.6:c.4306G>T	ENSP00000420201.2:p.Glu1436Ter
ENST00000476777.6:c.4426G>T	ENSP00000417554.2:p.Glu1476Ter
ENST00000477152.6:c.4354G>T	ENSP00000419988.2:p.Glu1452Ter
ENST00000478531.6:c.1120G>T	ENSP00000420412.2:p.Glu374Ter
ENST00000489037.2:c.4354G>T	ENSP00000420781.2:p.Glu1452Ter
ENST00000493919.6:c.982G>T	ENSP00000418819.2:p.Glu328Ter
ENST00000494123.6:c.4432G>T	ENSP00000419103.2:p.Glu1478Ter
ENST00000497488.2:c.3544G>T	ENSP00000418986.2:p.Glu1182Ter
ENST00000618469.2:c.4432G>T	ENSP00000478114.2:p.Glu1478Ter
ENST00000634433.2:c.4309G>T	ENSP00000489431.2:p.Glu1437Ter
ENST00000644379.2:c.4498G>T	ENSP00000496570.2:p.Glu1500Ter
ENST00000644555.2:c.982G>T	ENSP00000494614.2:p.Glu328Ter
ENST00000652672.2:c.4291G>T	ENSP00000498906.2:p.Glu1431Ter
ENST00000484087.6:c.994G>T	ENSP00000419481.2:p.Glu332Ter
ENST00000700182.1:c.1039G>T	ENSP00000514849.1:p.Glu347Ter
ENST00000357654.9:c.4432G>T MANE Select	ENSP00000350283.3:p.Glu1478Ter
ENST00000471181.7:c.4495G>T	ENSP00000418960.2:p.Glu1499Ter
ENST00000644379.1:c.819G>T
ENST00000352993.7:c.1006G>T	ENSP00000312236.5:p.Glu336Ter
ENST00000357654.7:c.4432G>T	ENSP00000350283.3:p.Glu1478Ter
ENST00000461221.5:c.*4215G>T	ENSP00000418548.1:n.*4215G>T
ENST00000461574.1:c.723G>T
ENST00000468300.5:c.1120G>T	ENSP00000417148.1:p.Glu374Ter
ENST00000471181.6:c.4495G>T	ENSP00000418960.2:p.Glu1499Ter
ENST00000478531.5:c.1120G>T	ENSP00000420412.1:p.Glu374Ter
ENST00000484087.5:c.745G>T	ENSP00000419481.1:p.Glu249Ter
ENST00000487825.5:c.748G>T	ENSP00000418212.1:p.Glu250Ter
ENST00000491747.6:c.1120G>T	ENSP00000420705.2:p.Glu374Ter
ENST00000493795.5:c.4291G>T	ENSP00000418775.1:p.Glu1431Ter
ENST00000493919.5:c.982G>T	ENSP00000418819.1:p.Glu328Ter
ENST00000586385.5:c.5-12589G>T	ENSP00000465818.1:n.5-12589G>T
ENST00000591534.5:c.-43-2019G>T	ENSP00000467329.1:n.-43-2019G>T
ENST00000591849.5:c.-98-26350G>T	ENSP00000465347.1:n.-98-26350G>T
ENST00000621897.1:n.323G>T
NM_007294.3:c.4432G>T , LRG_292t1:c.4432G>T	NP_009225.1:p.Glu1478Ter
NM_007297.3:c.4291G>T	NP_009228.2:p.Glu1431Ter
NM_007298.3:c.1120G>T	NP_009229.2:p.Glu374Ter
NM_007299.3:c.1120G>T	NP_009230.2:p.Glu374Ter
NM_007300.3:c.4495G>T	NP_009231.2:p.Glu1499Ter
NR_027676.1:n.4568G>T
NM_007294.4:c.4432G>T MANE Select	NP_009225.1:p.Glu1478Ter
NM_007297.4:c.4291G>T	NP_009228.2:p.Glu1431Ter
NM_007299.4:c.1120G>T	NP_009230.2:p.Glu374Ter
NM_007300.4:c.4495G>T	NP_009231.2:p.Glu1499Ter
NR_027676.2:n.4609G>T