Canonical Allele Identifier: CA003262

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55412
• ClinVar RCV Id: RCV000048808 ; RCV000112502 ; RCV000733369 ; RCV001023598
• dbSNP Id: rs80357132
• MyVariant Identifiers: chr17:g.41215905A>G (hg19) ; chr17:g.43063888A>G (hg38)
• PubMed: PMID:7611277 ; PMID:17308087

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063888A>G , CM000679.2:g.43063888A>G	GRCh38
NC_000017.10:g.41215905A>G , CM000679.1:g.41215905A>G	GRCh37
NC_000017.9:g.38469431A>G	NCBI36
NG_005905.2:g.154096T>C , LRG_292:g.154096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5135T>C	ENSP00000417241.2:p.Val1712Ala
ENST00000470026.6:c.5138T>C	ENSP00000419274.2:p.Val1713Ala
ENST00000473961.6:c.5012T>C	ENSP00000420201.2:p.Val1671Ala
ENST00000476777.6:c.5132T>C	ENSP00000417554.2:p.Val1711Ala
ENST00000477152.6:c.5060T>C	ENSP00000419988.2:p.Val1687Ala
ENST00000478531.6:c.1826T>C	ENSP00000420412.2:p.Val609Ala
ENST00000489037.2:c.5060T>C	ENSP00000420781.2:p.Val1687Ala
ENST00000493919.6:c.1688T>C	ENSP00000418819.2:p.Val563Ala
ENST00000494123.6:c.5138T>C	ENSP00000419103.2:p.Val1713Ala
ENST00000497488.2:c.4250T>C	ENSP00000418986.2:p.Val1417Ala
ENST00000618469.2:c.5138T>C	ENSP00000478114.2:p.Val1713Ala
ENST00000634433.2:c.5015T>C	ENSP00000489431.2:p.Val1672Ala
ENST00000644379.2:c.5204T>C	ENSP00000496570.2:p.Val1735Ala
ENST00000644555.2:c.1688T>C	ENSP00000494614.2:p.Val563Ala
ENST00000652672.2:c.4997T>C	ENSP00000498906.2:p.Val1666Ala
ENST00000484087.6:c.1700T>C	ENSP00000419481.2:p.Val567Ala
ENST00000357654.9:c.5138T>C MANE Select	ENSP00000350283.3:p.Val1713Ala
ENST00000471181.7:c.5201T>C	ENSP00000418960.2:p.Val1734Ala
ENST00000644379.1:c.1525T>C
ENST00000352993.7:c.1712T>C	ENSP00000312236.5:p.Val571Ala
ENST00000357654.7:c.5138T>C	ENSP00000350283.3:p.Val1713Ala
ENST00000461221.5:c.*4921T>C	ENSP00000418548.1:n.*4921T>C
ENST00000468300.5:c.1826T>C	ENSP00000417148.1:p.Val609Ala
ENST00000471181.6:c.5201T>C	ENSP00000418960.2:p.Val1734Ala
ENST00000478531.5:c.1826T>C	ENSP00000420412.1:p.Val609Ala
ENST00000484087.5:c.1451T>C	ENSP00000419481.1:p.Val484Ala
ENST00000491747.6:c.1826T>C	ENSP00000420705.2:p.Val609Ala
ENST00000493795.5:c.4997T>C	ENSP00000418775.1:p.Val1666Ala
ENST00000493919.5:c.1688T>C	ENSP00000418819.1:p.Val563Ala
ENST00000586385.5:c.68T>C	ENSP00000465818.1:p.Val23Ala
ENST00000591534.5:c.611T>C	ENSP00000467329.1:p.Val204Ala
ENST00000591849.5:c.-98-13698T>C	ENSP00000465347.1:n.-98-13698T>C
NM_007294.3:c.5138T>C , LRG_292t1:c.5138T>C	NP_009225.1:p.Val1713Ala
NM_007297.3:c.4997T>C	NP_009228.2:p.Val1666Ala
NM_007298.3:c.1826T>C	NP_009229.2:p.Val609Ala
NM_007299.3:c.1826T>C	NP_009230.2:p.Val609Ala
NM_007300.3:c.5201T>C	NP_009231.2:p.Val1734Ala
NR_027676.1:n.5274T>C
NM_007294.4:c.5138T>C MANE Select	NP_009225.1:p.Val1713Ala
NM_007297.4:c.4997T>C	NP_009228.2:p.Val1666Ala
NM_007299.4:c.1826T>C	NP_009230.2:p.Val609Ala
NM_007300.4:c.5201T>C	NP_009231.2:p.Val1734Ala
NR_027676.2:n.5315T>C