Canonical Allele Identifier: CA500123060

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154255805
• MyVariant Identifiers: chr17:g.41243018T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091001T>A , CM000679.2:g.43091001T>A	GRCh38
NC_000017.10:g.41243018T>A , CM000679.1:g.41243018T>A	GRCh37
NC_000017.9:g.38496544T>A	NCBI36
NG_005905.2:g.126983A>T , LRG_292:g.126983A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4128A>T	ENSP00000417241.2:p.Thr1376=
ENST00000470026.6:c.4128A>T	ENSP00000419274.2:p.Thr1376=
ENST00000473961.6:c.4002A>T	ENSP00000420201.2:p.Thr1334=
ENST00000476777.6:c.4125A>T	ENSP00000417554.2:p.Thr1375=
ENST00000477152.6:c.4050A>T	ENSP00000419988.2:p.Thr1350=
ENST00000478531.6:c.816A>T	ENSP00000420412.2:p.Thr272=
ENST00000489037.2:c.4050A>T	ENSP00000420781.2:p.Thr1350=
ENST00000493919.6:c.678A>T	ENSP00000418819.2:p.Thr226=
ENST00000494123.6:c.4128A>T	ENSP00000419103.2:p.Thr1376=
ENST00000497488.2:c.3240A>T	ENSP00000418986.2:p.Thr1080=
ENST00000618469.2:c.4128A>T	ENSP00000478114.2:p.Thr1376=
ENST00000634433.2:c.4005A>T	ENSP00000489431.2:p.Thr1335=
ENST00000644379.2:c.4128A>T	ENSP00000496570.2:p.Thr1376=
ENST00000644555.2:c.678A>T	ENSP00000494614.2:p.Thr226=
ENST00000652672.2:c.3987A>T	ENSP00000498906.2:p.Thr1329=
ENST00000484087.6:c.696A>T	ENSP00000419481.2:p.Thr232=
ENST00000700182.1:c.738A>T	ENSP00000514849.1:p.Thr246=
ENST00000357654.9:c.4128A>T MANE Select	ENSP00000350283.3:p.Thr1376=
ENST00000471181.7:c.4128A>T	ENSP00000418960.2:p.Thr1376=
ENST00000644379.1:c.449A>T
ENST00000352993.7:c.702A>T	ENSP00000312236.5:p.Thr234=
ENST00000357654.7:c.4128A>T	ENSP00000350283.3:p.Thr1376=
ENST00000461221.5:c.*3911A>T	ENSP00000418548.1:n.*3911A>T
ENST00000461574.1:c.422A>T
ENST00000468300.5:c.819A>T	ENSP00000417148.1:p.Thr273=
ENST00000471181.6:c.4128A>T	ENSP00000418960.2:p.Thr1376=
ENST00000478531.5:c.816A>T	ENSP00000420412.1:p.Thr272=
ENST00000484087.5:c.441A>T	ENSP00000419481.1:p.Thr147=
ENST00000487825.5:c.444A>T	ENSP00000418212.1:p.Thr148=
ENST00000491747.6:c.819A>T	ENSP00000420705.2:p.Thr273=
ENST00000493795.5:c.3987A>T	ENSP00000418775.1:p.Thr1329=
ENST00000493919.5:c.678A>T	ENSP00000418819.1:p.Thr226=
ENST00000586385.5:c.5-27050A>T	ENSP00000465818.1:n.5-27050A>T
ENST00000591534.5:c.-43-16480A>T	ENSP00000467329.1:n.-43-16480A>T
ENST00000591849.5:c.-99+34270A>T	ENSP00000465347.1:n.-99+34270A>T
NM_007294.3:c.4128A>T , LRG_292t1:c.4128A>T	NP_009225.1:p.Thr1376=
NM_007297.3:c.3987A>T	NP_009228.2:p.Thr1329=
NM_007298.3:c.819A>T	NP_009229.2:p.Thr273=
NM_007299.3:c.819A>T	NP_009230.2:p.Thr273=
NM_007300.3:c.4128A>T	NP_009231.2:p.Thr1376=
NR_027676.1:n.4264A>T
NM_007294.4:c.4128A>T MANE Select	NP_009225.1:p.Thr1376=
NM_007297.4:c.3987A>T	NP_009228.2:p.Thr1329=
NM_007299.4:c.819A>T	NP_009230.2:p.Thr273=
NM_007300.4:c.4128A>T	NP_009231.2:p.Thr1376=
NR_027676.2:n.4305A>T