Canonical Allele Identifier: CA10592158

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531345
• ClinVar RCV Id: RCV000637605 ; RCV003493689
• dbSNP Id: rs80358096
• MyVariant Identifiers: chr17:g.41223257T>G (hg19) ; chr17:g.43071240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071240T>G , CM000679.2:g.43071240T>G	GRCh38
NC_000017.10:g.41223257T>G , CM000679.1:g.41223257T>G	GRCh37
NC_000017.9:g.38476783T>G	NCBI36
NG_005905.2:g.146744A>C , LRG_292:g.146744A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4673-2A>C	ENSP00000417241.2:n.4673-2A>C
ENST00000470026.6:c.4676-2A>C	ENSP00000419274.2:n.4676-2A>C
ENST00000473961.6:c.4550-2A>C	ENSP00000420201.2:n.4550-2A>C
ENST00000476777.6:c.4670-2A>C	ENSP00000417554.2:n.4670-2A>C
ENST00000477152.6:c.4598-2A>C	ENSP00000419988.2:n.4598-2A>C
ENST00000478531.6:c.1364-2A>C	ENSP00000420412.2:n.1364-2A>C
ENST00000489037.2:c.4598-2A>C	ENSP00000420781.2:n.4598-2A>C
ENST00000493919.6:c.1226-2A>C	ENSP00000418819.2:n.1226-2A>C
ENST00000494123.6:c.4676-2A>C	ENSP00000419103.2:n.4676-2A>C
ENST00000497488.2:c.3788-2A>C	ENSP00000418986.2:n.3788-2A>C
ENST00000618469.2:c.4676-2A>C	ENSP00000478114.2:n.4676-2A>C
ENST00000634433.2:c.4553-2A>C	ENSP00000489431.2:n.4553-2A>C
ENST00000644379.2:c.4742-2A>C	ENSP00000496570.2:n.4742-2A>C
ENST00000644555.2:c.1226-2A>C	ENSP00000494614.2:n.1226-2A>C
ENST00000652672.2:c.4535-2A>C	ENSP00000498906.2:n.4535-2A>C
ENST00000484087.6:c.1238-2A>C	ENSP00000419481.2:n.1238-2A>C
ENST00000700182.1:c.1283-2A>C	ENSP00000514849.1:n.1283-2A>C
ENST00000357654.9:c.4676-2A>C MANE Select	ENSP00000350283.3:n.4676-2A>C
ENST00000471181.7:c.4739-2A>C	ENSP00000418960.2:n.4739-2A>C
ENST00000644379.1:c.1063-2A>C
ENST00000352993.7:c.1250-2A>C	ENSP00000312236.5:n.1250-2A>C
ENST00000357654.7:c.4676-2A>C	ENSP00000350283.3:n.4676-2A>C
ENST00000461221.5:c.*4459-2A>C	ENSP00000418548.1:n.*4459-2A>C
ENST00000468300.5:c.1364-2A>C	ENSP00000417148.1:n.1364-2A>C
ENST00000471181.6:c.4739-2A>C	ENSP00000418960.2:n.4739-2A>C
ENST00000478531.5:c.1364-2A>C	ENSP00000420412.1:n.1364-2A>C
ENST00000484087.5:c.989-2A>C	ENSP00000419481.1:n.989-2A>C
ENST00000491747.6:c.1364-2A>C	ENSP00000420705.2:n.1364-2A>C
ENST00000493795.5:c.4535-2A>C	ENSP00000418775.1:n.4535-2A>C
ENST00000493919.5:c.1226-2A>C	ENSP00000418819.1:n.1226-2A>C
ENST00000586385.5:c.5-7289A>C	ENSP00000465818.1:n.5-7289A>C
ENST00000591534.5:c.149-2A>C	ENSP00000467329.1:n.149-2A>C
ENST00000591849.5:c.-98-21050A>C	ENSP00000465347.1:n.-98-21050A>C
NM_007294.3:c.4676-2A>C , LRG_292t1:c.4676-2A>C	NP_009225.1:n.4676-2A>C
NM_007297.3:c.4535-2A>C	NP_009228.2:n.4535-2A>C
NM_007298.3:c.1364-2A>C	NP_009229.2:n.1364-2A>C
NM_007299.3:c.1364-2A>C	NP_009230.2:n.1364-2A>C
NM_007300.3:c.4739-2A>C	NP_009231.2:n.4739-2A>C
NR_027676.1:n.4812-2A>C
NM_007294.4:c.4676-2A>C MANE Select	NP_009225.1:n.4676-2A>C
NM_007297.4:c.4535-2A>C	NP_009228.2:n.4535-2A>C
NM_007299.4:c.1364-2A>C	NP_009230.2:n.1364-2A>C
NM_007300.4:c.4739-2A>C	NP_009231.2:n.4739-2A>C
NR_027676.2:n.4853-2A>C