Canonical Allele Identifier: CA10590192

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2954773
• ClinVar RCV Id: RCV003815972
• dbSNP Id: rs80357274
• MyVariant Identifiers: chr17:g.41197721G>C (hg19) ; chr17:g.43045704G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045704G>C , CM000679.2:g.43045704G>C	GRCh38
NC_000017.10:g.41197721G>C , CM000679.1:g.41197721G>C	GRCh37
NC_000017.9:g.38451247G>C	NCBI36
NG_005905.2:g.172280C>G , LRG_292:g.172280C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5563C>G	ENSP00000417241.2:p.Pro1855Ala
ENST00000470026.6:c.5566C>G	ENSP00000419274.2:p.Pro1856Ala
ENST00000473961.6:c.5440C>G	ENSP00000420201.2:p.Pro1814Ala
ENST00000476777.6:c.5560C>G	ENSP00000417554.2:p.Pro1854Ala
ENST00000477152.6:c.5488C>G	ENSP00000419988.2:p.Pro1830Ala
ENST00000478531.6:c.2254C>G	ENSP00000420412.2:p.Pro752Ala
ENST00000489037.2:c.5488C>G	ENSP00000420781.2:p.Pro1830Ala
ENST00000493919.6:c.2116C>G	ENSP00000418819.2:p.Pro706Ala
ENST00000494123.6:c.5566C>G	ENSP00000419103.2:p.Pro1856Ala
ENST00000497488.2:c.4678C>G	ENSP00000418986.2:p.Pro1560Ala
ENST00000618469.2:c.5566C>G	ENSP00000478114.2:p.Pro1856Ala
ENST00000634433.2:c.5443C>G	ENSP00000489431.2:p.Pro1815Ala
ENST00000644379.2:c.5632C>G	ENSP00000496570.2:p.Pro1878Ala
ENST00000644555.2:c.2116C>G	ENSP00000494614.2:p.Pro706Ala
ENST00000652672.2:c.5425C>G	ENSP00000498906.2:p.Pro1809Ala
ENST00000484087.6:c.2128C>G	ENSP00000419481.2:p.Pro710Ala
ENST00000700081.1:n.1449C>G
ENST00000700082.1:n.930C>G
ENST00000357654.9:c.5566C>G MANE Select	ENSP00000350283.3:p.Pro1856Ala
ENST00000471181.7:c.5629C>G	ENSP00000418960.2:p.Pro1877Ala
ENST00000644379.1:c.1953C>G
ENST00000352993.7:c.2140C>G	ENSP00000312236.5:p.Pro714Ala
ENST00000357654.7:c.5566C>G	ENSP00000350283.3:p.Pro1856Ala
ENST00000461221.5:c.*5349C>G	ENSP00000418548.1:n.*5349C>G
ENST00000468300.5:c.*80C>G	ENSP00000417148.1:n.*80C>G
ENST00000471181.6:c.5629C>G	ENSP00000418960.2:p.Pro1877Ala
ENST00000491747.6:c.2254C>G	ENSP00000420705.2:p.Pro752Ala
ENST00000493795.5:c.5425C>G	ENSP00000418775.1:p.Pro1809Ala
ENST00000586385.5:c.496C>G	ENSP00000465818.1:p.Pro166Ala
ENST00000591534.5:c.1039C>G	ENSP00000467329.1:p.Pro347Ala
ENST00000591849.5:c.265C>G	ENSP00000465347.1:p.Pro89Ala
NM_007294.3:c.5566C>G , LRG_292t1:c.5566C>G	NP_009225.1:p.Pro1856Ala
NM_007297.3:c.5425C>G	NP_009228.2:p.Pro1809Ala
NM_007298.3:c.2254C>G	NP_009229.2:p.Pro752Ala
NM_007299.3:c.*80C>G	NP_009230.2:n.*80C>G
NM_007300.3:c.5629C>G	NP_009231.2:p.Pro1877Ala
NR_027676.1:n.5702C>G
NM_007294.4:c.5566C>G MANE Select	NP_009225.1:p.Pro1856Ala
NM_007297.4:c.5425C>G	NP_009228.2:p.Pro1809Ala
NM_007299.4:c.*80C>G	NP_009230.2:n.*80C>G
NM_007300.4:c.5629C>G	NP_009231.2:p.Pro1877Ala
NR_027676.2:n.5743C>G