Canonical Allele Identifier: CA003706

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55622
• ClinVar RCV Id: RCV000083222 ; RCV000496623
• dbSNP Id: rs397509295
• MyVariant Identifiers: chr17:g.41197746G>T (hg19) ; chr17:g.43045729G>T (hg38)
• PubMed: PMID:21120943

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045729G>T , CM000679.2:g.43045729G>T	GRCh38
NC_000017.10:g.41197746G>T , CM000679.1:g.41197746G>T	GRCh37
NC_000017.9:g.38451272G>T	NCBI36
NG_005905.2:g.172255C>A , LRG_292:g.172255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5538C>A	ENSP00000417241.2:p.Cys1846Ter
ENST00000470026.6:c.5541C>A	ENSP00000419274.2:p.Cys1847Ter
ENST00000473961.6:c.5415C>A	ENSP00000420201.2:p.Cys1805Ter
ENST00000476777.6:c.5535C>A	ENSP00000417554.2:p.Cys1845Ter
ENST00000477152.6:c.5463C>A	ENSP00000419988.2:p.Cys1821Ter
ENST00000478531.6:c.2229C>A	ENSP00000420412.2:p.Cys743Ter
ENST00000489037.2:c.5463C>A	ENSP00000420781.2:p.Cys1821Ter
ENST00000493919.6:c.2091C>A	ENSP00000418819.2:p.Cys697Ter
ENST00000494123.6:c.5541C>A	ENSP00000419103.2:p.Cys1847Ter
ENST00000497488.2:c.4653C>A	ENSP00000418986.2:p.Cys1551Ter
ENST00000618469.2:c.5541C>A	ENSP00000478114.2:p.Cys1847Ter
ENST00000634433.2:c.5418C>A	ENSP00000489431.2:p.Cys1806Ter
ENST00000644379.2:c.5607C>A	ENSP00000496570.2:p.Cys1869Ter
ENST00000644555.2:c.2091C>A	ENSP00000494614.2:p.Cys697Ter
ENST00000652672.2:c.5400C>A	ENSP00000498906.2:p.Cys1800Ter
ENST00000484087.6:c.2103C>A	ENSP00000419481.2:p.Cys701Ter
ENST00000700081.1:n.1424C>A
ENST00000700082.1:n.905C>A
ENST00000357654.9:c.5541C>A MANE Select	ENSP00000350283.3:p.Cys1847Ter
ENST00000471181.7:c.5604C>A	ENSP00000418960.2:p.Cys1868Ter
ENST00000644379.1:c.1928C>A
ENST00000352993.7:c.2115C>A	ENSP00000312236.5:p.Cys705Ter
ENST00000357654.7:c.5541C>A	ENSP00000350283.3:p.Cys1847Ter
ENST00000461221.5:c.*5324C>A	ENSP00000418548.1:n.*5324C>A
ENST00000468300.5:c.*55C>A	ENSP00000417148.1:n.*55C>A
ENST00000471181.6:c.5604C>A	ENSP00000418960.2:p.Cys1868Ter
ENST00000491747.6:c.2229C>A	ENSP00000420705.2:p.Cys743Ter
ENST00000493795.5:c.5400C>A	ENSP00000418775.1:p.Cys1800Ter
ENST00000586385.5:c.471C>A	ENSP00000465818.1:p.Cys157Ter
ENST00000591534.5:c.1014C>A	ENSP00000467329.1:p.Cys338Ter
ENST00000591849.5:c.240C>A	ENSP00000465347.1:p.Cys80Ter
NM_007294.3:c.5541C>A , LRG_292t1:c.5541C>A	NP_009225.1:p.Cys1847Ter
NM_007297.3:c.5400C>A	NP_009228.2:p.Cys1800Ter
NM_007298.3:c.2229C>A	NP_009229.2:p.Cys743Ter
NM_007299.3:c.*55C>A	NP_009230.2:n.*55C>A
NM_007300.3:c.5604C>A	NP_009231.2:p.Cys1868Ter
NR_027676.1:n.5677C>A
NM_007294.4:c.5541C>A MANE Select	NP_009225.1:p.Cys1847Ter
NM_007297.4:c.5400C>A	NP_009228.2:p.Cys1800Ter
NM_007299.4:c.*55C>A	NP_009230.2:n.*55C>A
NM_007300.4:c.5604C>A	NP_009231.2:p.Cys1868Ter
NR_027676.2:n.5718C>A