Canonical Allele Identifier: CA003031

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55291
• ClinVar RCV Id: RCV000112402 ; RCV000215003 ; RCV000480361 ; RCV001382211
• dbSNP Id: rs80357352
• COSMIC: COSM4496976 ; COSM4496977
• MyVariant Identifiers: chr17:g.41223121G>A (hg19) ; chr17:g.43071104G>A (hg38)
• PubMed: PMID:9143931

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071104G>A , CM000679.2:g.43071104G>A	GRCh38
NC_000017.10:g.41223121G>A , CM000679.1:g.41223121G>A	GRCh37
NC_000017.9:g.38476647G>A	NCBI36
NG_005905.2:g.146880C>T , LRG_292:g.146880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4807C>T	ENSP00000417241.2:p.Gln1603Ter
ENST00000470026.6:c.4810C>T	ENSP00000419274.2:p.Gln1604Ter
ENST00000473961.6:c.4684C>T	ENSP00000420201.2:p.Gln1562Ter
ENST00000476777.6:c.4804C>T	ENSP00000417554.2:p.Gln1602Ter
ENST00000477152.6:c.4732C>T	ENSP00000419988.2:p.Gln1578Ter
ENST00000478531.6:c.1498C>T	ENSP00000420412.2:p.Gln500Ter
ENST00000489037.2:c.4732C>T	ENSP00000420781.2:p.Gln1578Ter
ENST00000493919.6:c.1360C>T	ENSP00000418819.2:p.Gln454Ter
ENST00000494123.6:c.4810C>T	ENSP00000419103.2:p.Gln1604Ter
ENST00000497488.2:c.3922C>T	ENSP00000418986.2:p.Gln1308Ter
ENST00000618469.2:c.4810C>T	ENSP00000478114.2:p.Gln1604Ter
ENST00000634433.2:c.4687C>T	ENSP00000489431.2:p.Gln1563Ter
ENST00000644379.2:c.4876C>T	ENSP00000496570.2:p.Gln1626Ter
ENST00000644555.2:c.1360C>T	ENSP00000494614.2:p.Gln454Ter
ENST00000652672.2:c.4669C>T	ENSP00000498906.2:p.Gln1557Ter
ENST00000484087.6:c.1372C>T	ENSP00000419481.2:p.Gln458Ter
ENST00000700182.1:c.1417C>T	ENSP00000514849.1:p.Gln473Ter
ENST00000357654.9:c.4810C>T MANE Select	ENSP00000350283.3:p.Gln1604Ter
ENST00000471181.7:c.4873C>T	ENSP00000418960.2:p.Gln1625Ter
ENST00000644379.1:c.1197C>T
ENST00000352993.7:c.1384C>T	ENSP00000312236.5:p.Gln462Ter
ENST00000357654.7:c.4810C>T	ENSP00000350283.3:p.Gln1604Ter
ENST00000461221.5:c.*4593C>T	ENSP00000418548.1:n.*4593C>T
ENST00000468300.5:c.1498C>T	ENSP00000417148.1:p.Gln500Ter
ENST00000471181.6:c.4873C>T	ENSP00000418960.2:p.Gln1625Ter
ENST00000478531.5:c.1498C>T	ENSP00000420412.1:p.Gln500Ter
ENST00000484087.5:c.1123C>T	ENSP00000419481.1:p.Gln375Ter
ENST00000491747.6:c.1498C>T	ENSP00000420705.2:p.Gln500Ter
ENST00000493795.5:c.4669C>T	ENSP00000418775.1:p.Gln1557Ter
ENST00000493919.5:c.1360C>T	ENSP00000418819.1:p.Gln454Ter
ENST00000586385.5:c.5-7153C>T	ENSP00000465818.1:n.5-7153C>T
ENST00000591534.5:c.283C>T	ENSP00000467329.1:p.Gln95Ter
ENST00000591849.5:c.-98-20914C>T	ENSP00000465347.1:n.-98-20914C>T
NM_007294.3:c.4810C>T , LRG_292t1:c.4810C>T	NP_009225.1:p.Gln1604Ter
NM_007297.3:c.4669C>T	NP_009228.2:p.Gln1557Ter
NM_007298.3:c.1498C>T	NP_009229.2:p.Gln500Ter
NM_007299.3:c.1498C>T	NP_009230.2:p.Gln500Ter
NM_007300.3:c.4873C>T	NP_009231.2:p.Gln1625Ter
NR_027676.1:n.4946C>T
NM_007294.4:c.4810C>T MANE Select	NP_009225.1:p.Gln1604Ter
NM_007297.4:c.4669C>T	NP_009228.2:p.Gln1557Ter
NM_007299.4:c.1498C>T	NP_009230.2:p.Gln500Ter
NM_007300.4:c.4873C>T	NP_009231.2:p.Gln1625Ter
NR_027676.2:n.4987C>T