Canonical Allele Identifier: CA10590148

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567756242
• MyVariant Identifiers: chr17:g.41197699T>A (hg19) ; chr17:g.43045682T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045682T>A , CM000679.2:g.43045682T>A	GRCh38
NC_000017.10:g.41197699T>A , CM000679.1:g.41197699T>A	GRCh37
NC_000017.9:g.38451225T>A	NCBI36
NG_005905.2:g.172302A>T , LRG_292:g.172302A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5585A>T	ENSP00000417241.2:p.Tyr1862Phe
ENST00000470026.6:c.5588A>T	ENSP00000419274.2:p.Tyr1863Phe
ENST00000473961.6:c.5462A>T	ENSP00000420201.2:p.Tyr1821Phe
ENST00000476777.6:c.5582A>T	ENSP00000417554.2:p.Tyr1861Phe
ENST00000477152.6:c.5510A>T	ENSP00000419988.2:p.Tyr1837Phe
ENST00000478531.6:c.2276A>T	ENSP00000420412.2:p.Tyr759Phe
ENST00000489037.2:c.5510A>T	ENSP00000420781.2:p.Tyr1837Phe
ENST00000493919.6:c.2138A>T	ENSP00000418819.2:p.Tyr713Phe
ENST00000494123.6:c.5588A>T	ENSP00000419103.2:p.Tyr1863Phe
ENST00000497488.2:c.4700A>T	ENSP00000418986.2:p.Tyr1567Phe
ENST00000618469.2:c.5588A>T	ENSP00000478114.2:p.Tyr1863Phe
ENST00000634433.2:c.5465A>T	ENSP00000489431.2:p.Tyr1822Phe
ENST00000644379.2:c.5654A>T	ENSP00000496570.2:p.Tyr1885Phe
ENST00000644555.2:c.2138A>T	ENSP00000494614.2:p.Tyr713Phe
ENST00000652672.2:c.5447A>T	ENSP00000498906.2:p.Tyr1816Phe
ENST00000484087.6:c.2150A>T	ENSP00000419481.2:p.Tyr717Phe
ENST00000700081.1:n.1471A>T
ENST00000700082.1:n.952A>T
ENST00000357654.9:c.5588A>T MANE Select	ENSP00000350283.3:p.Tyr1863Phe
ENST00000471181.7:c.5651A>T	ENSP00000418960.2:p.Tyr1884Phe
ENST00000644379.1:c.1975A>T
ENST00000352993.7:c.2162A>T	ENSP00000312236.5:p.Tyr721Phe
ENST00000357654.7:c.5588A>T	ENSP00000350283.3:p.Tyr1863Phe
ENST00000461221.5:c.*5371A>T	ENSP00000418548.1:n.*5371A>T
ENST00000468300.5:c.*102A>T	ENSP00000417148.1:n.*102A>T
ENST00000471181.6:c.5651A>T	ENSP00000418960.2:p.Tyr1884Phe
ENST00000491747.6:c.2276A>T	ENSP00000420705.2:p.Tyr759Phe
ENST00000493795.5:c.5447A>T	ENSP00000418775.1:p.Tyr1816Phe
ENST00000586385.5:c.518A>T	ENSP00000465818.1:p.Tyr173Phe
ENST00000591534.5:c.1061A>T	ENSP00000467329.1:p.Tyr354Phe
ENST00000591849.5:c.287A>T	ENSP00000465347.1:p.Tyr96Phe
NM_007294.3:c.5588A>T , LRG_292t1:c.5588A>T	NP_009225.1:p.Tyr1863Phe
NM_007297.3:c.5447A>T	NP_009228.2:p.Tyr1816Phe
NM_007298.3:c.2276A>T	NP_009229.2:p.Tyr759Phe
NM_007299.3:c.*102A>T	NP_009230.2:n.*102A>T
NM_007300.3:c.5651A>T	NP_009231.2:p.Tyr1884Phe
NR_027676.1:n.5724A>T
NM_007294.4:c.5588A>T MANE Select	NP_009225.1:p.Tyr1863Phe
NM_007297.4:c.5447A>T	NP_009228.2:p.Tyr1816Phe
NM_007299.4:c.*102A>T	NP_009230.2:n.*102A>T
NM_007300.4:c.5651A>T	NP_009231.2:p.Tyr1884Phe
NR_027676.2:n.5765A>T