Canonical Allele Identifier: CA003704

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55620
• ClinVar RCV Id: RCV000112699
• dbSNP Id: rs80356873
• MyVariant Identifiers: chr17:g.41197751G>A (hg19) ; chr17:g.43045734G>A (hg38)
• PubMed: PMID:16287141 ; PMID:20694749 ; PMID:22277901

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045734G>A , CM000679.2:g.43045734G>A	GRCh38
NC_000017.10:g.41197751G>A , CM000679.1:g.41197751G>A	GRCh37
NC_000017.9:g.38451277G>A	NCBI36
NG_005905.2:g.172250C>T , LRG_292:g.172250C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5533C>T	ENSP00000417241.2:p.Gln1845Ter
ENST00000470026.6:c.5536C>T	ENSP00000419274.2:p.Gln1846Ter
ENST00000473961.6:c.5410C>T	ENSP00000420201.2:p.Gln1804Ter
ENST00000476777.6:c.5530C>T	ENSP00000417554.2:p.Gln1844Ter
ENST00000477152.6:c.5458C>T	ENSP00000419988.2:p.Gln1820Ter
ENST00000478531.6:c.2224C>T	ENSP00000420412.2:p.Gln742Ter
ENST00000489037.2:c.5458C>T	ENSP00000420781.2:p.Gln1820Ter
ENST00000493919.6:c.2086C>T	ENSP00000418819.2:p.Gln696Ter
ENST00000494123.6:c.5536C>T	ENSP00000419103.2:p.Gln1846Ter
ENST00000497488.2:c.4648C>T	ENSP00000418986.2:p.Gln1550Ter
ENST00000618469.2:c.5536C>T	ENSP00000478114.2:p.Gln1846Ter
ENST00000634433.2:c.5413C>T	ENSP00000489431.2:p.Gln1805Ter
ENST00000644379.2:c.5602C>T	ENSP00000496570.2:p.Gln1868Ter
ENST00000644555.2:c.2086C>T	ENSP00000494614.2:p.Gln696Ter
ENST00000652672.2:c.5395C>T	ENSP00000498906.2:p.Gln1799Ter
ENST00000484087.6:c.2098C>T	ENSP00000419481.2:p.Gln700Ter
ENST00000700081.1:n.1419C>T
ENST00000700082.1:n.900C>T
ENST00000357654.9:c.5536C>T MANE Select	ENSP00000350283.3:p.Gln1846Ter
ENST00000471181.7:c.5599C>T	ENSP00000418960.2:p.Gln1867Ter
ENST00000644379.1:c.1923C>T
ENST00000352993.7:c.2110C>T	ENSP00000312236.5:p.Gln704Ter
ENST00000357654.7:c.5536C>T	ENSP00000350283.3:p.Gln1846Ter
ENST00000461221.5:c.*5319C>T	ENSP00000418548.1:n.*5319C>T
ENST00000468300.5:c.*50C>T	ENSP00000417148.1:n.*50C>T
ENST00000471181.6:c.5599C>T	ENSP00000418960.2:p.Gln1867Ter
ENST00000491747.6:c.2224C>T	ENSP00000420705.2:p.Gln742Ter
ENST00000493795.5:c.5395C>T	ENSP00000418775.1:p.Gln1799Ter
ENST00000586385.5:c.466C>T	ENSP00000465818.1:p.Gln156Ter
ENST00000591534.5:c.1009C>T	ENSP00000467329.1:p.Gln337Ter
ENST00000591849.5:c.235C>T	ENSP00000465347.1:p.Gln79Ter
NM_007294.3:c.5536C>T , LRG_292t1:c.5536C>T	NP_009225.1:p.Gln1846Ter
NM_007297.3:c.5395C>T	NP_009228.2:p.Gln1799Ter
NM_007298.3:c.2224C>T	NP_009229.2:p.Gln742Ter
NM_007299.3:c.*50C>T	NP_009230.2:n.*50C>T
NM_007300.3:c.5599C>T	NP_009231.2:p.Gln1867Ter
NR_027676.1:n.5672C>T
NM_007294.4:c.5536C>T MANE Select	NP_009225.1:p.Gln1846Ter
NM_007297.4:c.5395C>T	NP_009228.2:p.Gln1799Ter
NM_007299.4:c.*50C>T	NP_009230.2:n.*50C>T
NM_007300.4:c.5599C>T	NP_009231.2:p.Gln1867Ter
NR_027676.2:n.5713C>T