Canonical Allele Identifier: CA052506

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074457G>A , CM000679.2:g.43074457G>A	GRCh38
NC_000017.10:g.41226474G>A , CM000679.1:g.41226474G>A	GRCh37
NC_000017.9:g.38480000G>A	NCBI36
NG_005905.2:g.143527C>T , LRG_292:g.143527C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4549C>T MANE Select	NP_009225.1:p.Leu1517Phe
ENST00000357654.9:c.4549C>T MANE Select	ENSP00000350283.3:p.Leu1517Phe
NM_007294.3:c.4549C>T , LRG_292t1:c.4549C>T	NP_009225.1:p.Leu1517Phe
NM_007297.3:c.4408C>T	NP_009228.2:p.Leu1470Phe
NM_007297.4:c.4408C>T	NP_009228.2:p.Leu1470Phe
NM_007298.3:c.1237C>T	NP_009229.2:p.Leu413Phe
NM_007299.3:c.1237C>T	NP_009230.2:p.Leu413Phe
NM_007299.4:c.1237C>T	NP_009230.2:p.Leu413Phe
NM_007300.3:c.4612C>T	NP_009231.2:p.Leu1538Phe
NM_007300.4:c.4612C>T	NP_009231.2:p.Leu1538Phe
NR_027676.1:n.4685C>T
NR_027676.2:n.4726C>T
ENST00000352993.7:c.1123C>T	ENSP00000312236.5:p.Leu375Phe
ENST00000357654.7:c.4549C>T	ENSP00000350283.3:p.Leu1517Phe
ENST00000461221.5:c.*4332C>T	ENSP00000418548.1:n.*4332C>T
ENST00000461574.2:c.4546C>T	ENSP00000417241.2:p.Leu1516Phe
ENST00000468300.5:c.1237C>T	ENSP00000417148.1:p.Leu413Phe
ENST00000470026.6:c.4549C>T	ENSP00000419274.2:p.Leu1517Phe
ENST00000471181.6:c.4612C>T	ENSP00000418960.2:p.Leu1538Phe
ENST00000471181.7:c.4612C>T	ENSP00000418960.2:p.Leu1538Phe
ENST00000473961.6:c.4423C>T	ENSP00000420201.2:p.Leu1475Phe
ENST00000476777.6:c.4543C>T	ENSP00000417554.2:p.Leu1515Phe
ENST00000477152.6:c.4471C>T	ENSP00000419988.2:p.Leu1491Phe
ENST00000478531.5:c.1237C>T	ENSP00000420412.1:p.Leu413Phe
ENST00000478531.6:c.1237C>T	ENSP00000420412.2:p.Leu413Phe
ENST00000484087.5:c.862C>T	ENSP00000419481.1:p.Leu288Phe
ENST00000484087.6:c.1111C>T	ENSP00000419481.2:p.Leu371Phe
ENST00000489037.2:c.4471C>T	ENSP00000420781.2:p.Leu1491Phe
ENST00000491747.6:c.1237C>T	ENSP00000420705.2:p.Leu413Phe
ENST00000493795.5:c.4408C>T	ENSP00000418775.1:p.Leu1470Phe
ENST00000493919.5:c.1099C>T	ENSP00000418819.1:p.Leu367Phe
ENST00000493919.6:c.1099C>T	ENSP00000418819.2:p.Leu367Phe
ENST00000494123.6:c.4549C>T	ENSP00000419103.2:p.Leu1517Phe
ENST00000497488.2:c.3661C>T	ENSP00000418986.2:p.Leu1221Phe
ENST00000586385.5:c.5-10506C>T	ENSP00000465818.1:n.5-10506C>T
ENST00000591534.5:c.22C>T	ENSP00000467329.1:p.Leu8Phe
ENST00000591849.5:c.-98-24267C>T	ENSP00000465347.1:n.-98-24267C>T
ENST00000618469.2:c.4549C>T	ENSP00000478114.2:p.Leu1517Phe
ENST00000634433.2:c.4426C>T	ENSP00000489431.2:p.Leu1476Phe
ENST00000644379.1:c.936C>T
ENST00000644379.2:c.4615C>T	ENSP00000496570.2:p.Leu1539Phe
ENST00000644555.2:c.1099C>T	ENSP00000494614.2:p.Leu367Phe
ENST00000652672.2:c.4408C>T	ENSP00000498906.2:p.Leu1470Phe
ENST00000700182.1:c.1156C>T	ENSP00000514849.1:p.Leu386Phe