Canonical Allele Identifier: CA2260777878

Gene: BRCA1

Linked Data

• dbSNP Id: rs2053031131
• gnomAD v4: 17-43082254-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082254G>T , CM000679.2:g.43082254G>T	GRCh38
NC_000017.10:g.41234271G>T , CM000679.1:g.41234271G>T	GRCh37
NC_000017.9:g.38487797G>T	NCBI36
NG_005905.2:g.135730C>A , LRG_292:g.135730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357+150C>A	ENSP00000417241.2:n.4357+150C>A
ENST00000470026.6:c.4357+150C>A	ENSP00000419274.2:n.4357+150C>A
ENST00000473961.6:c.4231+150C>A	ENSP00000420201.2:n.4231+150C>A
ENST00000476777.6:c.4351+150C>A	ENSP00000417554.2:n.4351+150C>A
ENST00000477152.6:c.4279+150C>A	ENSP00000419988.2:n.4279+150C>A
ENST00000478531.6:c.1045+150C>A	ENSP00000420412.2:n.1045+150C>A
ENST00000489037.2:c.4279+150C>A	ENSP00000420781.2:n.4279+150C>A
ENST00000493919.6:c.907+150C>A	ENSP00000418819.2:n.907+150C>A
ENST00000494123.6:c.4357+150C>A	ENSP00000419103.2:n.4357+150C>A
ENST00000497488.2:c.3469+150C>A	ENSP00000418986.2:n.3469+150C>A
ENST00000618469.2:c.4357+150C>A	ENSP00000478114.2:n.4357+150C>A
ENST00000634433.2:c.4234+150C>A	ENSP00000489431.2:n.4234+150C>A
ENST00000644379.2:c.4357+150C>A	ENSP00000496570.2:n.4357+150C>A
ENST00000644555.2:c.907+150C>A	ENSP00000494614.2:n.907+150C>A
ENST00000652672.2:c.4216+150C>A	ENSP00000498906.2:n.4216+150C>A
ENST00000484087.6:c.922+150C>A	ENSP00000419481.2:n.922+150C>A
ENST00000700182.1:c.967+150C>A	ENSP00000514849.1:n.967+150C>A
ENST00000357654.9:c.4357+150C>A MANE Select	ENSP00000350283.3:n.4357+150C>A
ENST00000471181.7:c.4357+150C>A	ENSP00000418960.2:n.4357+150C>A
ENST00000644379.1:c.678+150C>A
ENST00000352993.7:c.931+150C>A	ENSP00000312236.5:n.931+150C>A
ENST00000357654.7:c.4357+150C>A	ENSP00000350283.3:n.4357+150C>A
ENST00000461221.5:c.*4140+150C>A	ENSP00000418548.1:n.*4140+150C>A
ENST00000461574.1:c.651+150C>A
ENST00000468300.5:c.1048+150C>A	ENSP00000417148.1:n.1048+150C>A
ENST00000471181.6:c.4357+150C>A	ENSP00000418960.2:n.4357+150C>A
ENST00000478531.5:c.1045+150C>A	ENSP00000420412.1:n.1045+150C>A
ENST00000484087.5:c.670+150C>A	ENSP00000419481.1:n.670+150C>A
ENST00000487825.5:c.673+150C>A	ENSP00000418212.1:n.673+150C>A
ENST00000491747.6:c.1048+150C>A	ENSP00000420705.2:n.1048+150C>A
ENST00000493795.5:c.4216+150C>A	ENSP00000418775.1:n.4216+150C>A
ENST00000493919.5:c.907+150C>A	ENSP00000418819.1:n.907+150C>A
ENST00000586385.5:c.5-18303C>A	ENSP00000465818.1:n.5-18303C>A
ENST00000591534.5:c.-43-7733C>A	ENSP00000467329.1:n.-43-7733C>A
ENST00000591849.5:c.-98-32064C>A	ENSP00000465347.1:n.-98-32064C>A
ENST00000621897.1:n.251+150C>A
NM_007294.3:c.4357+150C>A , LRG_292t1:c.4357+150C>A	NP_009225.1:n.4357+150C>A
NM_007297.3:c.4216+150C>A	NP_009228.2:n.4216+150C>A
NM_007298.3:c.1048+150C>A	NP_009229.2:n.1048+150C>A
NM_007299.3:c.1048+150C>A	NP_009230.2:n.1048+150C>A
NM_007300.3:c.4357+150C>A	NP_009231.2:n.4357+150C>A
NR_027676.1:n.4493+150C>A
NM_007294.4:c.4357+150C>A MANE Select	NP_009225.1:n.4357+150C>A
NM_007297.4:c.4216+150C>A	NP_009228.2:n.4216+150C>A
NM_007299.4:c.1048+150C>A	NP_009230.2:n.1048+150C>A
NM_007300.4:c.4357+150C>A	NP_009231.2:n.4357+150C>A
NR_027676.2:n.4534+150C>A