Canonical Allele Identifier: CA055273

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868637
• ClinVar RCV Id: RCV001077576
• dbSNP Id: rs397509295
• ExAC: 17:41197746 G / C
• gnomAD v2: 17-41197746-G-C
• MyVariant Identifiers: chr17:g.41197746G>C (hg19) ; chr17:g.43045729G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5538C>G	ENSP00000417241.2:p.Cys1846Trp
ENST00000470026.6:c.5541C>G	ENSP00000419274.2:p.Cys1847Trp
ENST00000473961.6:c.5415C>G	ENSP00000420201.2:p.Cys1805Trp
ENST00000476777.6:c.5535C>G	ENSP00000417554.2:p.Cys1845Trp
ENST00000477152.6:c.5463C>G	ENSP00000419988.2:p.Cys1821Trp
ENST00000478531.6:c.2229C>G	ENSP00000420412.2:p.Cys743Trp
ENST00000489037.2:c.5463C>G	ENSP00000420781.2:p.Cys1821Trp
ENST00000493919.6:c.2091C>G	ENSP00000418819.2:p.Cys697Trp
ENST00000494123.6:c.5541C>G	ENSP00000419103.2:p.Cys1847Trp
ENST00000497488.2:c.4653C>G	ENSP00000418986.2:p.Cys1551Trp
ENST00000618469.2:c.5541C>G	ENSP00000478114.2:p.Cys1847Trp
ENST00000634433.2:c.5418C>G	ENSP00000489431.2:p.Cys1806Trp
ENST00000644379.2:c.5607C>G	ENSP00000496570.2:p.Cys1869Trp
ENST00000644555.2:c.2091C>G	ENSP00000494614.2:p.Cys697Trp
ENST00000652672.2:c.5400C>G	ENSP00000498906.2:p.Cys1800Trp
ENST00000484087.6:c.2103C>G	ENSP00000419481.2:p.Cys701Trp
ENST00000700081.1:n.1424C>G
ENST00000700082.1:n.905C>G
ENST00000357654.9:c.5541C>G MANE Select	ENSP00000350283.3:p.Cys1847Trp
ENST00000471181.7:c.5604C>G	ENSP00000418960.2:p.Cys1868Trp
ENST00000644379.1:c.1928C>G
ENST00000352993.7:c.2115C>G	ENSP00000312236.5:p.Cys705Trp
ENST00000357654.7:c.5541C>G	ENSP00000350283.3:p.Cys1847Trp
ENST00000461221.5:c.*5324C>G	ENSP00000418548.1:n.*5324C>G
ENST00000468300.5:c.*55C>G	ENSP00000417148.1:n.*55C>G
ENST00000471181.6:c.5604C>G	ENSP00000418960.2:p.Cys1868Trp
ENST00000491747.6:c.2229C>G	ENSP00000420705.2:p.Cys743Trp
ENST00000493795.5:c.5400C>G	ENSP00000418775.1:p.Cys1800Trp
ENST00000586385.5:c.471C>G	ENSP00000465818.1:p.Cys157Trp
ENST00000591534.5:c.1014C>G	ENSP00000467329.1:p.Cys338Trp
ENST00000591849.5:c.240C>G	ENSP00000465347.1:p.Cys80Trp
NM_007294.3:c.5541C>G , LRG_292t1:c.5541C>G	NP_009225.1:p.Cys1847Trp
NM_007297.3:c.5400C>G	NP_009228.2:p.Cys1800Trp
NM_007298.3:c.2229C>G	NP_009229.2:p.Cys743Trp
NM_007299.3:c.*55C>G	NP_009230.2:n.*55C>G
NM_007300.3:c.5604C>G	NP_009231.2:p.Cys1868Trp
NR_027676.1:n.5677C>G
NM_007294.4:c.5541C>G MANE Select	NP_009225.1:p.Cys1847Trp
NM_007297.4:c.5400C>G	NP_009228.2:p.Cys1800Trp
NM_007299.4:c.*55C>G	NP_009230.2:n.*55C>G
NM_007300.4:c.5604C>G	NP_009231.2:p.Cys1868Trp
NR_027676.2:n.5718C>G