Canonical Allele Identifier: CA916080907

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868336
• ClinVar RCV Id: RCV001077217
• dbSNP Id: rs2051099941

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049207T>A , CM000679.2:g.43049207T>A	GRCh38
NC_000017.10:g.41201224T>A , CM000679.1:g.41201224T>A	GRCh37
NC_000017.9:g.38454750T>A	NCBI36
NG_005905.2:g.168777A>T , LRG_292:g.168777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-13A>T	ENSP00000417241.2:n.5330-13A>T
ENST00000470026.6:c.5333-13A>T	ENSP00000419274.2:n.5333-13A>T
ENST00000473961.6:c.5207-13A>T	ENSP00000420201.2:n.5207-13A>T
ENST00000476777.6:c.5327-13A>T	ENSP00000417554.2:n.5327-13A>T
ENST00000477152.6:c.5255-13A>T	ENSP00000419988.2:n.5255-13A>T
ENST00000478531.6:c.2021-13A>T	ENSP00000420412.2:n.2021-13A>T
ENST00000489037.2:c.5255-13A>T	ENSP00000420781.2:n.5255-13A>T
ENST00000493919.6:c.1883-13A>T	ENSP00000418819.2:n.1883-13A>T
ENST00000494123.6:c.5333-13A>T	ENSP00000419103.2:n.5333-13A>T
ENST00000497488.2:c.4445-13A>T	ENSP00000418986.2:n.4445-13A>T
ENST00000618469.2:c.5333-13A>T	ENSP00000478114.2:n.5333-13A>T
ENST00000634433.2:c.5210-13A>T	ENSP00000489431.2:n.5210-13A>T
ENST00000644379.2:c.5399-13A>T	ENSP00000496570.2:n.5399-13A>T
ENST00000644555.2:c.1883-13A>T	ENSP00000494614.2:n.1883-13A>T
ENST00000652672.2:c.5192-13A>T	ENSP00000498906.2:n.5192-13A>T
ENST00000484087.6:c.1895-13A>T	ENSP00000419481.2:n.1895-13A>T
ENST00000700081.1:n.1203A>T
ENST00000357654.9:c.5333-13A>T MANE Select	ENSP00000350283.3:n.5333-13A>T
ENST00000471181.7:c.5396-13A>T	ENSP00000418960.2:n.5396-13A>T
ENST00000644379.1:c.1720-13A>T
ENST00000352993.7:c.1907-13A>T	ENSP00000312236.5:n.1907-13A>T
ENST00000357654.7:c.5333-13A>T	ENSP00000350283.3:n.5333-13A>T
ENST00000461221.5:c.*5116-13A>T	ENSP00000418548.1:n.*5116-13A>T
ENST00000468300.5:c.2021-1504A>T	ENSP00000417148.1:n.2021-1504A>T
ENST00000471181.6:c.5396-13A>T	ENSP00000418960.2:n.5396-13A>T
ENST00000491747.6:c.2021-13A>T	ENSP00000420705.2:n.2021-13A>T
ENST00000493795.5:c.5192-13A>T	ENSP00000418775.1:n.5192-13A>T
ENST00000586385.5:c.263-13A>T	ENSP00000465818.1:n.263-13A>T
ENST00000591534.5:c.806-13A>T	ENSP00000467329.1:n.806-13A>T
ENST00000591849.5:c.32-13A>T	ENSP00000465347.1:n.32-13A>T
NM_007294.3:c.5333-13A>T , LRG_292t1:c.5333-13A>T	NP_009225.1:n.5333-13A>T
NM_007297.3:c.5192-13A>T	NP_009228.2:n.5192-13A>T
NM_007298.3:c.2021-13A>T	NP_009229.2:n.2021-13A>T
NM_007299.3:c.2021-1504A>T	NP_009230.2:n.2021-1504A>T
NM_007300.3:c.5396-13A>T	NP_009231.2:n.5396-13A>T
NR_027676.1:n.5469-13A>T
NM_007294.4:c.5333-13A>T MANE Select	NP_009225.1:n.5333-13A>T
NM_007297.4:c.5192-13A>T	NP_009228.2:n.5192-13A>T
NM_007299.4:c.2021-1504A>T	NP_009230.2:n.2021-1504A>T
NM_007300.4:c.5396-13A>T	NP_009231.2:n.5396-13A>T
NR_027676.2:n.5510-13A>T