Canonical Allele Identifier: CA500146135

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868712
• ClinVar RCV Id: RCV001077664
• dbSNP Id: rs397509230
• MyVariant Identifiers: chr17:g.41215895A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878A>G , CM000679.2:g.43063878A>G	GRCh38
NC_000017.10:g.41215895A>G , CM000679.1:g.41215895A>G	GRCh37
NC_000017.9:g.38469421A>G	NCBI36
NG_005905.2:g.154106T>C , LRG_292:g.154106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5145T>C	ENSP00000417241.2:p.Tyr1715=
ENST00000470026.6:c.5148T>C	ENSP00000419274.2:p.Tyr1716=
ENST00000473961.6:c.5022T>C	ENSP00000420201.2:p.Tyr1674=
ENST00000476777.6:c.5142T>C	ENSP00000417554.2:p.Tyr1714=
ENST00000477152.6:c.5070T>C	ENSP00000419988.2:p.Tyr1690=
ENST00000478531.6:c.1836T>C	ENSP00000420412.2:p.Tyr612=
ENST00000489037.2:c.5070T>C	ENSP00000420781.2:p.Tyr1690=
ENST00000493919.6:c.1698T>C	ENSP00000418819.2:p.Tyr566=
ENST00000494123.6:c.5148T>C	ENSP00000419103.2:p.Tyr1716=
ENST00000497488.2:c.4260T>C	ENSP00000418986.2:p.Tyr1420=
ENST00000618469.2:c.5148T>C	ENSP00000478114.2:p.Tyr1716=
ENST00000634433.2:c.5025T>C	ENSP00000489431.2:p.Tyr1675=
ENST00000644379.2:c.5214T>C	ENSP00000496570.2:p.Tyr1738=
ENST00000644555.2:c.1698T>C	ENSP00000494614.2:p.Tyr566=
ENST00000652672.2:c.5007T>C	ENSP00000498906.2:p.Tyr1669=
ENST00000484087.6:c.1710T>C	ENSP00000419481.2:p.Tyr570=
ENST00000357654.9:c.5148T>C MANE Select	ENSP00000350283.3:p.Tyr1716=
ENST00000471181.7:c.5211T>C	ENSP00000418960.2:p.Tyr1737=
ENST00000644379.1:c.1535T>C
ENST00000352993.7:c.1722T>C	ENSP00000312236.5:p.Tyr574=
ENST00000357654.7:c.5148T>C	ENSP00000350283.3:p.Tyr1716=
ENST00000461221.5:c.*4931T>C	ENSP00000418548.1:n.*4931T>C
ENST00000468300.5:c.1836T>C	ENSP00000417148.1:p.Tyr612=
ENST00000471181.6:c.5211T>C	ENSP00000418960.2:p.Tyr1737=
ENST00000478531.5:c.1836T>C	ENSP00000420412.1:p.Tyr612=
ENST00000484087.5:c.1461T>C	ENSP00000419481.1:p.Tyr487=
ENST00000491747.6:c.1836T>C	ENSP00000420705.2:p.Tyr612=
ENST00000493795.5:c.5007T>C	ENSP00000418775.1:p.Tyr1669=
ENST00000493919.5:c.1698T>C	ENSP00000418819.1:p.Tyr566=
ENST00000586385.5:c.78T>C	ENSP00000465818.1:p.Tyr26=
ENST00000591534.5:c.621T>C	ENSP00000467329.1:p.Tyr207=
ENST00000591849.5:c.-98-13688T>C	ENSP00000465347.1:n.-98-13688T>C
NM_007294.3:c.5148T>C , LRG_292t1:c.5148T>C	NP_009225.1:p.Tyr1716=
NM_007297.3:c.5007T>C	NP_009228.2:p.Tyr1669=
NM_007298.3:c.1836T>C	NP_009229.2:p.Tyr612=
NM_007299.3:c.1836T>C	NP_009230.2:p.Tyr612=
NM_007300.3:c.5211T>C	NP_009231.2:p.Tyr1737=
NR_027676.1:n.5284T>C
NM_007294.4:c.5148T>C MANE Select	NP_009225.1:p.Tyr1716=
NM_007297.4:c.5007T>C	NP_009228.2:p.Tyr1669=
NM_007299.4:c.1836T>C	NP_009230.2:p.Tyr612=
NM_007300.4:c.5211T>C	NP_009231.2:p.Tyr1737=
NR_027676.2:n.5325T>C