Canonical Allele Identifier: CA916080066

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868750
• ClinVar RCV Id: RCV001077706
• dbSNP Id: rs45471406

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063386T>A , CM000679.2:g.43063386T>A	GRCh38
NC_000017.10:g.41215403T>A , CM000679.1:g.41215403T>A	GRCh37
NC_000017.9:g.38468929T>A	NCBI36
NG_005905.2:g.154598A>T , LRG_292:g.154598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5150-13A>T	ENSP00000417241.2:n.5150-13A>T
ENST00000470026.6:c.5153-13A>T	ENSP00000419274.2:n.5153-13A>T
ENST00000473961.6:c.5027-13A>T	ENSP00000420201.2:n.5027-13A>T
ENST00000476777.6:c.5147-13A>T	ENSP00000417554.2:n.5147-13A>T
ENST00000477152.6:c.5075-13A>T	ENSP00000419988.2:n.5075-13A>T
ENST00000478531.6:c.1841-13A>T	ENSP00000420412.2:n.1841-13A>T
ENST00000489037.2:c.5075-13A>T	ENSP00000420781.2:n.5075-13A>T
ENST00000493919.6:c.1703-13A>T	ENSP00000418819.2:n.1703-13A>T
ENST00000494123.6:c.5153-13A>T	ENSP00000419103.2:n.5153-13A>T
ENST00000497488.2:c.4265-13A>T	ENSP00000418986.2:n.4265-13A>T
ENST00000618469.2:c.5153-13A>T	ENSP00000478114.2:n.5153-13A>T
ENST00000634433.2:c.5030-13A>T	ENSP00000489431.2:n.5030-13A>T
ENST00000644379.2:c.5219-13A>T	ENSP00000496570.2:n.5219-13A>T
ENST00000644555.2:c.1703-13A>T	ENSP00000494614.2:n.1703-13A>T
ENST00000652672.2:c.5012-13A>T	ENSP00000498906.2:n.5012-13A>T
ENST00000484087.6:c.1715-13A>T	ENSP00000419481.2:n.1715-13A>T
ENST00000357654.9:c.5153-13A>T MANE Select	ENSP00000350283.3:n.5153-13A>T
ENST00000471181.7:c.5216-13A>T	ENSP00000418960.2:n.5216-13A>T
ENST00000644379.1:c.1540-13A>T
ENST00000352993.7:c.1727-13A>T	ENSP00000312236.5:n.1727-13A>T
ENST00000357654.7:c.5153-13A>T	ENSP00000350283.3:n.5153-13A>T
ENST00000461221.5:c.*4936-13A>T	ENSP00000418548.1:n.*4936-13A>T
ENST00000468300.5:c.1841-13A>T	ENSP00000417148.1:n.1841-13A>T
ENST00000471181.6:c.5216-13A>T	ENSP00000418960.2:n.5216-13A>T
ENST00000478531.5:c.1841-13A>T	ENSP00000420412.1:n.1841-13A>T
ENST00000484087.5:c.1466-13A>T	ENSP00000419481.1:n.1466-13A>T
ENST00000491747.6:c.1841-13A>T	ENSP00000420705.2:n.1841-13A>T
ENST00000493795.5:c.5012-13A>T	ENSP00000418775.1:n.5012-13A>T
ENST00000493919.5:c.1703-13A>T	ENSP00000418819.1:n.1703-13A>T
ENST00000586385.5:c.83-13A>T	ENSP00000465818.1:n.83-13A>T
ENST00000591534.5:c.626-13A>T	ENSP00000467329.1:n.626-13A>T
ENST00000591849.5:c.-98-13196A>T	ENSP00000465347.1:n.-98-13196A>T
NM_007294.3:c.5153-13A>T , LRG_292t1:c.5153-13A>T	NP_009225.1:n.5153-13A>T
NM_007297.3:c.5012-13A>T	NP_009228.2:n.5012-13A>T
NM_007298.3:c.1841-13A>T	NP_009229.2:n.1841-13A>T
NM_007299.3:c.1841-13A>T	NP_009230.2:n.1841-13A>T
NM_007300.3:c.5216-13A>T	NP_009231.2:n.5216-13A>T
NR_027676.1:n.5289-13A>T
NM_007294.4:c.5153-13A>T MANE Select	NP_009225.1:n.5153-13A>T
NM_007297.4:c.5012-13A>T	NP_009228.2:n.5012-13A>T
NM_007299.4:c.1841-13A>T	NP_009230.2:n.1841-13A>T
NM_007300.4:c.5216-13A>T	NP_009231.2:n.5216-13A>T
NR_027676.2:n.5330-13A>T