Canonical Allele Identifier: CA500148373

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 745471
• ClinVar RCV Id: RCV001395374
• dbSNP Id: rs1060915
• MyVariant Identifiers: chr17:g.41234470A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082453A>C , CM000679.2:g.43082453A>C	GRCh38
NC_000017.10:g.41234470A>C , CM000679.1:g.41234470A>C	GRCh37
NC_000017.9:g.38487996A>C	NCBI36
NG_005905.2:g.135531T>G , LRG_292:g.135531T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4308T>G	ENSP00000417241.2:p.Ser1436=
ENST00000470026.6:c.4308T>G	ENSP00000419274.2:p.Ser1436=
ENST00000473961.6:c.4182T>G	ENSP00000420201.2:p.Ser1394=
ENST00000476777.6:c.4302T>G	ENSP00000417554.2:p.Ser1434=
ENST00000477152.6:c.4230T>G	ENSP00000419988.2:p.Ser1410=
ENST00000478531.6:c.996T>G	ENSP00000420412.2:p.Ser332=
ENST00000489037.2:c.4230T>G	ENSP00000420781.2:p.Ser1410=
ENST00000493919.6:c.858T>G	ENSP00000418819.2:p.Ser286=
ENST00000494123.6:c.4308T>G	ENSP00000419103.2:p.Ser1436=
ENST00000497488.2:c.3420T>G	ENSP00000418986.2:p.Ser1140=
ENST00000618469.2:c.4308T>G	ENSP00000478114.2:p.Ser1436=
ENST00000634433.2:c.4185T>G	ENSP00000489431.2:p.Ser1395=
ENST00000644379.2:c.4308T>G	ENSP00000496570.2:p.Ser1436=
ENST00000644555.2:c.858T>G	ENSP00000494614.2:p.Ser286=
ENST00000652672.2:c.4167T>G	ENSP00000498906.2:p.Ser1389=
ENST00000484087.6:c.873T>G	ENSP00000419481.2:p.Ser291=
ENST00000700182.1:c.918T>G	ENSP00000514849.1:p.Ser306=
ENST00000357654.9:c.4308T>G MANE Select	ENSP00000350283.3:p.Ser1436=
ENST00000471181.7:c.4308T>G	ENSP00000418960.2:p.Ser1436=
ENST00000644379.1:c.629T>G
ENST00000352993.7:c.882T>G	ENSP00000312236.5:p.Ser294=
ENST00000357654.7:c.4308T>G	ENSP00000350283.3:p.Ser1436=
ENST00000461221.5:c.*4091T>G	ENSP00000418548.1:n.*4091T>G
ENST00000461574.1:c.602T>G
ENST00000468300.5:c.999T>G	ENSP00000417148.1:p.Ser333=
ENST00000471181.6:c.4308T>G	ENSP00000418960.2:p.Ser1436=
ENST00000478531.5:c.996T>G	ENSP00000420412.1:p.Ser332=
ENST00000484087.5:c.621T>G	ENSP00000419481.1:p.Ser207=
ENST00000487825.5:c.624T>G	ENSP00000418212.1:p.Ser208=
ENST00000491747.6:c.999T>G	ENSP00000420705.2:p.Ser333=
ENST00000493795.5:c.4167T>G	ENSP00000418775.1:p.Ser1389=
ENST00000493919.5:c.858T>G	ENSP00000418819.1:p.Ser286=
ENST00000586385.5:c.5-18502T>G	ENSP00000465818.1:n.5-18502T>G
ENST00000591534.5:c.-43-7932T>G	ENSP00000467329.1:n.-43-7932T>G
ENST00000591849.5:c.-98-32263T>G	ENSP00000465347.1:n.-98-32263T>G
ENST00000621897.1:n.202T>G
NM_007294.3:c.4308T>G , LRG_292t1:c.4308T>G	NP_009225.1:p.Ser1436=
NM_007297.3:c.4167T>G	NP_009228.2:p.Ser1389=
NM_007298.3:c.999T>G	NP_009229.2:p.Ser333=
NM_007299.3:c.999T>G	NP_009230.2:p.Ser333=
NM_007300.3:c.4308T>G	NP_009231.2:p.Ser1436=
NR_027676.1:n.4444T>G
NM_007294.4:c.4308T>G MANE Select	NP_009225.1:p.Ser1436=
NM_007297.4:c.4167T>G	NP_009228.2:p.Ser1389=
NM_007299.4:c.999T>G	NP_009230.2:p.Ser333=
NM_007300.4:c.4308T>G	NP_009231.2:p.Ser1436=
NR_027676.2:n.4485T>G