Canonical Allele Identifier: CA10592375

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154009252
• MyVariant Identifiers: chr17:g.41226453A>T (hg19) ; chr17:g.43074436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074436A>T , CM000679.2:g.43074436A>T	GRCh38
NC_000017.10:g.41226453A>T , CM000679.1:g.41226453A>T	GRCh37
NC_000017.9:g.38479979A>T	NCBI36
NG_005905.2:g.143548T>A , LRG_292:g.143548T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4567T>A	ENSP00000417241.2:p.Ser1523Thr
ENST00000470026.6:c.4570T>A	ENSP00000419274.2:p.Ser1524Thr
ENST00000473961.6:c.4444T>A	ENSP00000420201.2:p.Ser1482Thr
ENST00000476777.6:c.4564T>A	ENSP00000417554.2:p.Ser1522Thr
ENST00000477152.6:c.4492T>A	ENSP00000419988.2:p.Ser1498Thr
ENST00000478531.6:c.1258T>A	ENSP00000420412.2:p.Ser420Thr
ENST00000489037.2:c.4492T>A	ENSP00000420781.2:p.Ser1498Thr
ENST00000493919.6:c.1120T>A	ENSP00000418819.2:p.Ser374Thr
ENST00000494123.6:c.4570T>A	ENSP00000419103.2:p.Ser1524Thr
ENST00000497488.2:c.3682T>A	ENSP00000418986.2:p.Ser1228Thr
ENST00000618469.2:c.4570T>A	ENSP00000478114.2:p.Ser1524Thr
ENST00000634433.2:c.4447T>A	ENSP00000489431.2:p.Ser1483Thr
ENST00000644379.2:c.4636T>A	ENSP00000496570.2:p.Ser1546Thr
ENST00000644555.2:c.1120T>A	ENSP00000494614.2:p.Ser374Thr
ENST00000652672.2:c.4429T>A	ENSP00000498906.2:p.Ser1477Thr
ENST00000484087.6:c.1132T>A	ENSP00000419481.2:p.Ser378Thr
ENST00000700182.1:c.1177T>A	ENSP00000514849.1:p.Ser393Thr
ENST00000357654.9:c.4570T>A MANE Select	ENSP00000350283.3:p.Ser1524Thr
ENST00000471181.7:c.4633T>A	ENSP00000418960.2:p.Ser1545Thr
ENST00000644379.1:c.957T>A
ENST00000352993.7:c.1144T>A	ENSP00000312236.5:p.Ser382Thr
ENST00000357654.7:c.4570T>A	ENSP00000350283.3:p.Ser1524Thr
ENST00000461221.5:c.*4353T>A	ENSP00000418548.1:n.*4353T>A
ENST00000468300.5:c.1258T>A	ENSP00000417148.1:p.Ser420Thr
ENST00000471181.6:c.4633T>A	ENSP00000418960.2:p.Ser1545Thr
ENST00000478531.5:c.1258T>A	ENSP00000420412.1:p.Ser420Thr
ENST00000484087.5:c.883T>A	ENSP00000419481.1:p.Ser295Thr
ENST00000491747.6:c.1258T>A	ENSP00000420705.2:p.Ser420Thr
ENST00000493795.5:c.4429T>A	ENSP00000418775.1:p.Ser1477Thr
ENST00000493919.5:c.1120T>A	ENSP00000418819.1:p.Ser374Thr
ENST00000586385.5:c.5-10485T>A	ENSP00000465818.1:n.5-10485T>A
ENST00000591534.5:c.43T>A	ENSP00000467329.1:p.Ser15Thr
ENST00000591849.5:c.-98-24246T>A	ENSP00000465347.1:n.-98-24246T>A
NM_007294.3:c.4570T>A , LRG_292t1:c.4570T>A	NP_009225.1:p.Ser1524Thr
NM_007297.3:c.4429T>A	NP_009228.2:p.Ser1477Thr
NM_007298.3:c.1258T>A	NP_009229.2:p.Ser420Thr
NM_007299.3:c.1258T>A	NP_009230.2:p.Ser420Thr
NM_007300.3:c.4633T>A	NP_009231.2:p.Ser1545Thr
NR_027676.1:n.4706T>A
NM_007294.4:c.4570T>A MANE Select	NP_009225.1:p.Ser1524Thr
NM_007297.4:c.4429T>A	NP_009228.2:p.Ser1477Thr
NM_007299.4:c.1258T>A	NP_009230.2:p.Ser420Thr
NM_007300.4:c.4633T>A	NP_009231.2:p.Ser1545Thr
NR_027676.2:n.4747T>A