Canonical Allele Identifier: CA10592226

Gene: BRCA1

Linked Data

• dbSNP Id: rs273900737
• MyVariant Identifiers: chr17:g.41226380G>T (hg19) ; chr17:g.43074363G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074363G>T , CM000679.2:g.43074363G>T	GRCh38
NC_000017.10:g.41226380G>T , CM000679.1:g.41226380G>T	GRCh37
NC_000017.9:g.38479906G>T	NCBI36
NG_005905.2:g.143621C>A , LRG_292:g.143621C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4640C>A	ENSP00000417241.2:p.Thr1547Lys
ENST00000470026.6:c.4643C>A	ENSP00000419274.2:p.Thr1548Lys
ENST00000473961.6:c.4517C>A	ENSP00000420201.2:p.Thr1506Lys
ENST00000476777.6:c.4637C>A	ENSP00000417554.2:p.Thr1546Lys
ENST00000477152.6:c.4565C>A	ENSP00000419988.2:p.Thr1522Lys
ENST00000478531.6:c.1331C>A	ENSP00000420412.2:p.Thr444Lys
ENST00000489037.2:c.4565C>A	ENSP00000420781.2:p.Thr1522Lys
ENST00000493919.6:c.1193C>A	ENSP00000418819.2:p.Thr398Lys
ENST00000494123.6:c.4643C>A	ENSP00000419103.2:p.Thr1548Lys
ENST00000497488.2:c.3755C>A	ENSP00000418986.2:p.Thr1252Lys
ENST00000618469.2:c.4643C>A	ENSP00000478114.2:p.Thr1548Lys
ENST00000634433.2:c.4520C>A	ENSP00000489431.2:p.Thr1507Lys
ENST00000644379.2:c.4709C>A	ENSP00000496570.2:p.Thr1570Lys
ENST00000644555.2:c.1193C>A	ENSP00000494614.2:p.Thr398Lys
ENST00000652672.2:c.4502C>A	ENSP00000498906.2:p.Thr1501Lys
ENST00000484087.6:c.1205C>A	ENSP00000419481.2:p.Thr402Lys
ENST00000700182.1:c.1250C>A	ENSP00000514849.1:p.Thr417Lys
ENST00000357654.9:c.4643C>A MANE Select	ENSP00000350283.3:p.Thr1548Lys
ENST00000471181.7:c.4706C>A	ENSP00000418960.2:p.Thr1569Lys
ENST00000644379.1:c.1030C>A
ENST00000352993.7:c.1217C>A	ENSP00000312236.5:p.Thr406Lys
ENST00000357654.7:c.4643C>A	ENSP00000350283.3:p.Thr1548Lys
ENST00000461221.5:c.*4426C>A	ENSP00000418548.1:n.*4426C>A
ENST00000468300.5:c.1331C>A	ENSP00000417148.1:p.Thr444Lys
ENST00000471181.6:c.4706C>A	ENSP00000418960.2:p.Thr1569Lys
ENST00000478531.5:c.1331C>A	ENSP00000420412.1:p.Thr444Lys
ENST00000484087.5:c.956C>A	ENSP00000419481.1:p.Thr319Lys
ENST00000491747.6:c.1331C>A	ENSP00000420705.2:p.Thr444Lys
ENST00000493795.5:c.4502C>A	ENSP00000418775.1:p.Thr1501Lys
ENST00000493919.5:c.1193C>A	ENSP00000418819.1:p.Thr398Lys
ENST00000586385.5:c.5-10412C>A	ENSP00000465818.1:n.5-10412C>A
ENST00000591534.5:c.116C>A	ENSP00000467329.1:p.Thr39Lys
ENST00000591849.5:c.-98-24173C>A	ENSP00000465347.1:n.-98-24173C>A
NM_007294.3:c.4643C>A , LRG_292t1:c.4643C>A	NP_009225.1:p.Thr1548Lys
NM_007297.3:c.4502C>A	NP_009228.2:p.Thr1501Lys
NM_007298.3:c.1331C>A	NP_009229.2:p.Thr444Lys
NM_007299.3:c.1331C>A	NP_009230.2:p.Thr444Lys
NM_007300.3:c.4706C>A	NP_009231.2:p.Thr1569Lys
NR_027676.1:n.4779C>A
NM_007294.4:c.4643C>A MANE Select	NP_009225.1:p.Thr1548Lys
NM_007297.4:c.4502C>A	NP_009228.2:p.Thr1501Lys
NM_007299.4:c.1331C>A	NP_009230.2:p.Thr444Lys
NM_007300.4:c.4706C>A	NP_009231.2:p.Thr1569Lys
NR_027676.2:n.4820C>A