Canonical Allele Identifier: CA10593025

Gene: BRCA1

Linked Data

• dbSNP Id: rs886040226
• gnomAD v4: 17-43082412-G-T
• MyVariant Identifiers: chr17:g.41234429G>T (hg19) ; chr17:g.43082412G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082412G>T , CM000679.2:g.43082412G>T	GRCh38
NC_000017.10:g.41234429G>T , CM000679.1:g.41234429G>T	GRCh37
NC_000017.9:g.38487955G>T	NCBI36
NG_005905.2:g.135572C>A , LRG_292:g.135572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4349C>A	ENSP00000417241.2:p.Ser1450Ter
ENST00000470026.6:c.4349C>A	ENSP00000419274.2:p.Ser1450Ter
ENST00000473961.6:c.4223C>A	ENSP00000420201.2:p.Ser1408Ter
ENST00000476777.6:c.4343C>A	ENSP00000417554.2:p.Ser1448Ter
ENST00000477152.6:c.4271C>A	ENSP00000419988.2:p.Ser1424Ter
ENST00000478531.6:c.1037C>A	ENSP00000420412.2:p.Ser346Ter
ENST00000489037.2:c.4271C>A	ENSP00000420781.2:p.Ser1424Ter
ENST00000493919.6:c.899C>A	ENSP00000418819.2:p.Ser300Ter
ENST00000494123.6:c.4349C>A	ENSP00000419103.2:p.Ser1450Ter
ENST00000497488.2:c.3461C>A	ENSP00000418986.2:p.Ser1154Ter
ENST00000618469.2:c.4349C>A	ENSP00000478114.2:p.Ser1450Ter
ENST00000634433.2:c.4226C>A	ENSP00000489431.2:p.Ser1409Ter
ENST00000644379.2:c.4349C>A	ENSP00000496570.2:p.Ser1450Ter
ENST00000644555.2:c.899C>A	ENSP00000494614.2:p.Ser300Ter
ENST00000652672.2:c.4208C>A	ENSP00000498906.2:p.Ser1403Ter
ENST00000484087.6:c.914C>A	ENSP00000419481.2:p.Ser305Ter
ENST00000700182.1:c.959C>A	ENSP00000514849.1:p.Ser320Ter
ENST00000357654.9:c.4349C>A MANE Select	ENSP00000350283.3:p.Ser1450Ter
ENST00000471181.7:c.4349C>A	ENSP00000418960.2:p.Ser1450Ter
ENST00000644379.1:c.670C>A
ENST00000352993.7:c.923C>A	ENSP00000312236.5:p.Ser308Ter
ENST00000357654.7:c.4349C>A	ENSP00000350283.3:p.Ser1450Ter
ENST00000461221.5:c.*4132C>A	ENSP00000418548.1:n.*4132C>A
ENST00000461574.1:c.643C>A
ENST00000468300.5:c.1040C>A	ENSP00000417148.1:p.Ser347Ter
ENST00000471181.6:c.4349C>A	ENSP00000418960.2:p.Ser1450Ter
ENST00000478531.5:c.1037C>A	ENSP00000420412.1:p.Ser346Ter
ENST00000484087.5:c.662C>A	ENSP00000419481.1:p.Ser221Ter
ENST00000487825.5:c.665C>A	ENSP00000418212.1:p.Ser222Ter
ENST00000491747.6:c.1040C>A	ENSP00000420705.2:p.Ser347Ter
ENST00000493795.5:c.4208C>A	ENSP00000418775.1:p.Ser1403Ter
ENST00000493919.5:c.899C>A	ENSP00000418819.1:p.Ser300Ter
ENST00000586385.5:c.5-18461C>A	ENSP00000465818.1:n.5-18461C>A
ENST00000591534.5:c.-43-7891C>A	ENSP00000467329.1:n.-43-7891C>A
ENST00000591849.5:c.-98-32222C>A	ENSP00000465347.1:n.-98-32222C>A
ENST00000621897.1:n.243C>A
NM_007294.3:c.4349C>A , LRG_292t1:c.4349C>A	NP_009225.1:p.Ser1450Ter
NM_007297.3:c.4208C>A	NP_009228.2:p.Ser1403Ter
NM_007298.3:c.1040C>A	NP_009229.2:p.Ser347Ter
NM_007299.3:c.1040C>A	NP_009230.2:p.Ser347Ter
NM_007300.3:c.4349C>A	NP_009231.2:p.Ser1450Ter
NR_027676.1:n.4485C>A
NM_007294.4:c.4349C>A MANE Select	NP_009225.1:p.Ser1450Ter
NM_007297.4:c.4208C>A	NP_009228.2:p.Ser1403Ter
NM_007299.4:c.1040C>A	NP_009230.2:p.Ser347Ter
NM_007300.4:c.4349C>A	NP_009231.2:p.Ser1450Ter
NR_027676.2:n.4526C>A