Canonical Allele Identifier: CA10590954

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051098A>G , CM000679.2:g.43051098A>G	GRCh38
NC_000017.10:g.41203115A>G , CM000679.1:g.41203115A>G	GRCh37
NC_000017.9:g.38456641A>G	NCBI36
NG_005905.2:g.166886T>C , LRG_292:g.166886T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5297T>C MANE Select	NP_009225.1:p.Ile1766Thr
ENST00000357654.9:c.5297T>C MANE Select	ENSP00000350283.3:p.Ile1766Thr
NM_007294.3:c.5297T>C , LRG_292t1:c.5297T>C	NP_009225.1:p.Ile1766Thr
NM_007297.3:c.5156T>C	NP_009228.2:p.Ile1719Thr
NM_007297.4:c.5156T>C	NP_009228.2:p.Ile1719Thr
NM_007298.3:c.1985T>C	NP_009229.2:p.Ile662Thr
NM_007299.3:c.1985T>C	NP_009230.2:p.Ile662Thr
NM_007299.4:c.1985T>C	NP_009230.2:p.Ile662Thr
NM_007300.3:c.5360T>C	NP_009231.2:p.Ile1787Thr
NM_007300.4:c.5360T>C	NP_009231.2:p.Ile1787Thr
NR_027676.1:n.5433T>C
NR_027676.2:n.5474T>C
ENST00000352993.7:c.1871T>C	ENSP00000312236.5:p.Ile624Thr
ENST00000357654.7:c.5297T>C	ENSP00000350283.3:p.Ile1766Thr
ENST00000461221.5:c.*5080T>C	ENSP00000418548.1:n.*5080T>C
ENST00000461574.2:c.5294T>C	ENSP00000417241.2:p.Ile1765Thr
ENST00000468300.5:c.1985T>C	ENSP00000417148.1:p.Ile662Thr
ENST00000470026.6:c.5297T>C	ENSP00000419274.2:p.Ile1766Thr
ENST00000471181.6:c.5360T>C	ENSP00000418960.2:p.Ile1787Thr
ENST00000471181.7:c.5360T>C	ENSP00000418960.2:p.Ile1787Thr
ENST00000473961.6:c.5171T>C	ENSP00000420201.2:p.Ile1724Thr
ENST00000476777.6:c.5291T>C	ENSP00000417554.2:p.Ile1764Thr
ENST00000477152.6:c.5219T>C	ENSP00000419988.2:p.Ile1740Thr
ENST00000478531.6:c.1985T>C	ENSP00000420412.2:p.Ile662Thr
ENST00000484087.6:c.1859T>C	ENSP00000419481.2:p.Ile620Thr
ENST00000489037.2:c.5219T>C	ENSP00000420781.2:p.Ile1740Thr
ENST00000491747.6:c.1985T>C	ENSP00000420705.2:p.Ile662Thr
ENST00000493795.5:c.5156T>C	ENSP00000418775.1:p.Ile1719Thr
ENST00000493919.6:c.1847T>C	ENSP00000418819.2:p.Ile616Thr
ENST00000494123.6:c.5297T>C	ENSP00000419103.2:p.Ile1766Thr
ENST00000497488.2:c.4409T>C	ENSP00000418986.2:p.Ile1470Thr
ENST00000586385.5:c.227T>C	ENSP00000465818.1:p.Ile76Thr
ENST00000591534.5:c.770T>C	ENSP00000467329.1:p.Ile257Thr
ENST00000591849.5:c.-98-908T>C	ENSP00000465347.1:n.-98-908T>C
ENST00000618469.2:c.5297T>C	ENSP00000478114.2:p.Ile1766Thr
ENST00000634433.2:c.5174T>C	ENSP00000489431.2:p.Ile1725Thr
ENST00000644379.1:c.1684T>C
ENST00000644379.2:c.5363T>C	ENSP00000496570.2:p.Ile1788Thr
ENST00000644555.2:c.1847T>C	ENSP00000494614.2:p.Ile616Thr
ENST00000652672.2:c.5156T>C	ENSP00000498906.2:p.Ile1719Thr