Canonical Allele Identifier: CA10580498

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 230624
• ClinVar RCV Id: RCV000223034 ; RCV000257427 ; RCV001386034
• dbSNP Id: rs876658672
• MyVariant Identifiers: chr17:g.41215908C>T (hg19) ; chr17:g.43063891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063891C>T , CM000679.2:g.43063891C>T	GRCh38
NC_000017.10:g.41215908C>T , CM000679.1:g.41215908C>T	GRCh37
NC_000017.9:g.38469434C>T	NCBI36
NG_005905.2:g.154093G>A , LRG_292:g.154093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5132G>A	ENSP00000417241.2:p.Trp1711Ter
ENST00000470026.6:c.5135G>A	ENSP00000419274.2:p.Trp1712Ter
ENST00000473961.6:c.5009G>A	ENSP00000420201.2:p.Trp1670Ter
ENST00000476777.6:c.5129G>A	ENSP00000417554.2:p.Trp1710Ter
ENST00000477152.6:c.5057G>A	ENSP00000419988.2:p.Trp1686Ter
ENST00000478531.6:c.1823G>A	ENSP00000420412.2:p.Trp608Ter
ENST00000489037.2:c.5057G>A	ENSP00000420781.2:p.Trp1686Ter
ENST00000493919.6:c.1685G>A	ENSP00000418819.2:p.Trp562Ter
ENST00000494123.6:c.5135G>A	ENSP00000419103.2:p.Trp1712Ter
ENST00000497488.2:c.4247G>A	ENSP00000418986.2:p.Trp1416Ter
ENST00000618469.2:c.5135G>A	ENSP00000478114.2:p.Trp1712Ter
ENST00000634433.2:c.5012G>A	ENSP00000489431.2:p.Trp1671Ter
ENST00000644379.2:c.5201G>A	ENSP00000496570.2:p.Trp1734Ter
ENST00000644555.2:c.1685G>A	ENSP00000494614.2:p.Trp562Ter
ENST00000652672.2:c.4994G>A	ENSP00000498906.2:p.Trp1665Ter
ENST00000484087.6:c.1697G>A	ENSP00000419481.2:p.Trp566Ter
ENST00000357654.9:c.5135G>A MANE Select	ENSP00000350283.3:p.Trp1712Ter
ENST00000471181.7:c.5198G>A	ENSP00000418960.2:p.Trp1733Ter
ENST00000644379.1:c.1522G>A
ENST00000352993.7:c.1709G>A	ENSP00000312236.5:p.Trp570Ter
ENST00000357654.7:c.5135G>A	ENSP00000350283.3:p.Trp1712Ter
ENST00000461221.5:c.*4918G>A	ENSP00000418548.1:n.*4918G>A
ENST00000468300.5:c.1823G>A	ENSP00000417148.1:p.Trp608Ter
ENST00000471181.6:c.5198G>A	ENSP00000418960.2:p.Trp1733Ter
ENST00000478531.5:c.1823G>A	ENSP00000420412.1:p.Trp608Ter
ENST00000484087.5:c.1448G>A	ENSP00000419481.1:p.Trp483Ter
ENST00000491747.6:c.1823G>A	ENSP00000420705.2:p.Trp608Ter
ENST00000493795.5:c.4994G>A	ENSP00000418775.1:p.Trp1665Ter
ENST00000493919.5:c.1685G>A	ENSP00000418819.1:p.Trp562Ter
ENST00000586385.5:c.65G>A	ENSP00000465818.1:p.Trp22Ter
ENST00000591534.5:c.608G>A	ENSP00000467329.1:p.Trp203Ter
ENST00000591849.5:c.-98-13701G>A	ENSP00000465347.1:n.-98-13701G>A
NM_007294.3:c.5135G>A , LRG_292t1:c.5135G>A	NP_009225.1:p.Trp1712Ter
NM_007297.3:c.4994G>A	NP_009228.2:p.Trp1665Ter
NM_007298.3:c.1823G>A	NP_009229.2:p.Trp608Ter
NM_007299.3:c.1823G>A	NP_009230.2:p.Trp608Ter
NM_007300.3:c.5198G>A	NP_009231.2:p.Trp1733Ter
NR_027676.1:n.5271G>A
NM_007294.4:c.5135G>A MANE Select	NP_009225.1:p.Trp1712Ter
NM_007297.4:c.4994G>A	NP_009228.2:p.Trp1665Ter
NM_007299.4:c.1823G>A	NP_009230.2:p.Trp608Ter
NM_007300.4:c.5198G>A	NP_009231.2:p.Trp1733Ter
NR_027676.2:n.5312G>A