Canonical Allele Identifier: CA10591025

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057065G>A , CM000679.2:g.43057065G>A	GRCh38
NC_000017.10:g.41209082G>A , CM000679.1:g.41209082G>A	GRCh37
NC_000017.9:g.38462608G>A	NCBI36
NG_005905.2:g.160919C>T , LRG_292:g.160919C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5264C>T MANE Select	NP_009225.1:p.Ser1755Phe
ENST00000357654.9:c.5264C>T MANE Select	ENSP00000350283.3:p.Ser1755Phe
NM_007294.3:c.5264C>T , LRG_292t1:c.5264C>T	NP_009225.1:p.Ser1755Phe
NM_007297.3:c.5123C>T	NP_009228.2:p.Ser1708Phe
NM_007297.4:c.5123C>T	NP_009228.2:p.Ser1708Phe
NM_007298.3:c.1952C>T	NP_009229.2:p.Ser651Phe
NM_007299.3:c.1952C>T	NP_009230.2:p.Ser651Phe
NM_007299.4:c.1952C>T	NP_009230.2:p.Ser651Phe
NM_007300.3:c.5327C>T	NP_009231.2:p.Ser1776Phe
NM_007300.4:c.5327C>T	NP_009231.2:p.Ser1776Phe
NR_027676.1:n.5400C>T
NR_027676.2:n.5441C>T
ENST00000352993.7:c.1838C>T	ENSP00000312236.5:p.Ser613Phe
ENST00000357654.7:c.5264C>T	ENSP00000350283.3:p.Ser1755Phe
ENST00000461221.5:c.*5047C>T	ENSP00000418548.1:n.*5047C>T
ENST00000461574.2:c.5261C>T	ENSP00000417241.2:p.Ser1754Phe
ENST00000468300.5:c.1952C>T	ENSP00000417148.1:p.Ser651Phe
ENST00000470026.6:c.5264C>T	ENSP00000419274.2:p.Ser1755Phe
ENST00000471181.6:c.5327C>T	ENSP00000418960.2:p.Ser1776Phe
ENST00000471181.7:c.5327C>T	ENSP00000418960.2:p.Ser1776Phe
ENST00000473961.6:c.5138C>T	ENSP00000420201.2:p.Ser1713Phe
ENST00000476777.6:c.5258C>T	ENSP00000417554.2:p.Ser1753Phe
ENST00000477152.6:c.5186C>T	ENSP00000419988.2:p.Ser1729Phe
ENST00000478531.6:c.1952C>T	ENSP00000420412.2:p.Ser651Phe
ENST00000484087.6:c.1826C>T	ENSP00000419481.2:p.Ser609Phe
ENST00000489037.2:c.5186C>T	ENSP00000420781.2:p.Ser1729Phe
ENST00000491747.6:c.1952C>T	ENSP00000420705.2:p.Ser651Phe
ENST00000493795.5:c.5123C>T	ENSP00000418775.1:p.Ser1708Phe
ENST00000493919.6:c.1814C>T	ENSP00000418819.2:p.Ser605Phe
ENST00000494123.6:c.5264C>T	ENSP00000419103.2:p.Ser1755Phe
ENST00000497488.2:c.4376C>T	ENSP00000418986.2:p.Ser1459Phe
ENST00000586385.5:c.194C>T	ENSP00000465818.1:p.Ser65Phe
ENST00000591534.5:c.737C>T	ENSP00000467329.1:p.Ser246Phe
ENST00000591849.5:c.-98-6875C>T	ENSP00000465347.1:n.-98-6875C>T
ENST00000618469.2:c.5264C>T	ENSP00000478114.2:p.Ser1755Phe
ENST00000634433.2:c.5141C>T	ENSP00000489431.2:p.Ser1714Phe
ENST00000644379.1:c.1651C>T
ENST00000644379.2:c.5330C>T	ENSP00000496570.2:p.Ser1777Phe
ENST00000644555.2:c.1814C>T	ENSP00000494614.2:p.Ser605Phe
ENST00000652672.2:c.5123C>T	ENSP00000498906.2:p.Ser1708Phe