Canonical Allele Identifier: CA003476

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 17695
• ClinVar RCV Id: RCV000019265 ; RCV000496817 ; RCV001526335
• dbSNP Id: rs41293463
• MyVariant Identifiers: chr17:g.41203088A>T (hg19) ; chr17:g.43051071A>T (hg38)
• PubMed: PMID:18285836 ; PMID:21990134

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051071A>T , CM000679.2:g.43051071A>T	GRCh38
NC_000017.10:g.41203088A>T , CM000679.1:g.41203088A>T	GRCh37
NC_000017.9:g.38456614A>T	NCBI36
NG_005905.2:g.166913T>A , LRG_292:g.166913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5321T>A	ENSP00000417241.2:p.Met1774Lys
ENST00000470026.6:c.5324T>A	ENSP00000419274.2:p.Met1775Lys
ENST00000473961.6:c.5198T>A	ENSP00000420201.2:p.Met1733Lys
ENST00000476777.6:c.5318T>A	ENSP00000417554.2:p.Met1773Lys
ENST00000477152.6:c.5246T>A	ENSP00000419988.2:p.Met1749Lys
ENST00000478531.6:c.2012T>A	ENSP00000420412.2:p.Met671Lys
ENST00000489037.2:c.5246T>A	ENSP00000420781.2:p.Met1749Lys
ENST00000493919.6:c.1874T>A	ENSP00000418819.2:p.Met625Lys
ENST00000494123.6:c.5324T>A	ENSP00000419103.2:p.Met1775Lys
ENST00000497488.2:c.4436T>A	ENSP00000418986.2:p.Met1479Lys
ENST00000618469.2:c.5324T>A	ENSP00000478114.2:p.Met1775Lys
ENST00000634433.2:c.5201T>A	ENSP00000489431.2:p.Met1734Lys
ENST00000644379.2:c.5390T>A	ENSP00000496570.2:p.Met1797Lys
ENST00000644555.2:c.1874T>A	ENSP00000494614.2:p.Met625Lys
ENST00000652672.2:c.5183T>A	ENSP00000498906.2:p.Met1728Lys
ENST00000484087.6:c.1886T>A	ENSP00000419481.2:p.Met629Lys
ENST00000357654.9:c.5324T>A MANE Select	ENSP00000350283.3:p.Met1775Lys
ENST00000471181.7:c.5387T>A	ENSP00000418960.2:p.Met1796Lys
ENST00000644379.1:c.1711T>A
ENST00000352993.7:c.1898T>A	ENSP00000312236.5:p.Met633Lys
ENST00000357654.7:c.5324T>A	ENSP00000350283.3:p.Met1775Lys
ENST00000461221.5:c.*5107T>A	ENSP00000418548.1:n.*5107T>A
ENST00000468300.5:c.2012T>A	ENSP00000417148.1:p.Met671Lys
ENST00000471181.6:c.5387T>A	ENSP00000418960.2:p.Met1796Lys
ENST00000491747.6:c.2012T>A	ENSP00000420705.2:p.Met671Lys
ENST00000493795.5:c.5183T>A	ENSP00000418775.1:p.Met1728Lys
ENST00000586385.5:c.254T>A	ENSP00000465818.1:p.Met85Lys
ENST00000591534.5:c.797T>A	ENSP00000467329.1:p.Met266Lys
ENST00000591849.5:c.-98-881T>A	ENSP00000465347.1:n.-98-881T>A
NM_007294.3:c.5324T>A , LRG_292t1:c.5324T>A	NP_009225.1:p.Met1775Lys
NM_007297.3:c.5183T>A	NP_009228.2:p.Met1728Lys
NM_007298.3:c.2012T>A	NP_009229.2:p.Met671Lys
NM_007299.3:c.2012T>A	NP_009230.2:p.Met671Lys
NM_007300.3:c.5387T>A	NP_009231.2:p.Met1796Lys
NR_027676.1:n.5460T>A
NM_007294.4:c.5324T>A MANE Select	NP_009225.1:p.Met1775Lys
NM_007297.4:c.5183T>A	NP_009228.2:p.Met1728Lys
NM_007299.4:c.2012T>A	NP_009230.2:p.Met671Lys
NM_007300.4:c.5387T>A	NP_009231.2:p.Met1796Lys
NR_027676.2:n.5501T>A