Canonical Allele Identifier: CA10590611

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047690A>G , CM000679.2:g.43047690A>G	GRCh38
NC_000017.10:g.41199707A>G , CM000679.1:g.41199707A>G	GRCh37
NC_000017.9:g.38453233A>G	NCBI36
NG_005905.2:g.170294T>C , LRG_292:g.170294T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5420T>C MANE Select	NP_009225.1:p.Ile1807Thr
ENST00000357654.9:c.5420T>C MANE Select	ENSP00000350283.3:p.Ile1807Thr
NM_007294.3:c.5420T>C , LRG_292t1:c.5420T>C	NP_009225.1:p.Ile1807Thr
NM_007297.3:c.5279T>C	NP_009228.2:p.Ile1760Thr
NM_007297.4:c.5279T>C	NP_009228.2:p.Ile1760Thr
NM_007298.3:c.2108T>C	NP_009229.2:p.Ile703Thr
NM_007299.3:c.2034T>C	NP_009230.2:p.Asn678=
NM_007299.4:c.2034T>C	NP_009230.2:p.Asn678=
NM_007300.3:c.5483T>C	NP_009231.2:p.Ile1828Thr
NM_007300.4:c.5483T>C	NP_009231.2:p.Ile1828Thr
NR_027676.1:n.5556T>C
NR_027676.2:n.5597T>C
ENST00000352993.7:c.1994T>C	ENSP00000312236.5:p.Ile665Thr
ENST00000357654.7:c.5420T>C	ENSP00000350283.3:p.Ile1807Thr
ENST00000461221.5:c.*5203T>C	ENSP00000418548.1:n.*5203T>C
ENST00000461574.2:c.5417T>C	ENSP00000417241.2:p.Ile1806Thr
ENST00000468300.5:c.2034T>C	ENSP00000417148.1:p.Asn678=
ENST00000470026.6:c.5420T>C	ENSP00000419274.2:p.Ile1807Thr
ENST00000471181.6:c.5483T>C	ENSP00000418960.2:p.Ile1828Thr
ENST00000471181.7:c.5483T>C	ENSP00000418960.2:p.Ile1828Thr
ENST00000473961.6:c.5294T>C	ENSP00000420201.2:p.Ile1765Thr
ENST00000476777.6:c.5414T>C	ENSP00000417554.2:p.Ile1805Thr
ENST00000477152.6:c.5342T>C	ENSP00000419988.2:p.Ile1781Thr
ENST00000478531.6:c.2108T>C	ENSP00000420412.2:p.Ile703Thr
ENST00000484087.6:c.1982T>C	ENSP00000419481.2:p.Ile661Thr
ENST00000489037.2:c.5342T>C	ENSP00000420781.2:p.Ile1781Thr
ENST00000491747.6:c.2108T>C	ENSP00000420705.2:p.Ile703Thr
ENST00000493795.5:c.5279T>C	ENSP00000418775.1:p.Ile1760Thr
ENST00000493919.6:c.1970T>C	ENSP00000418819.2:p.Ile657Thr
ENST00000494123.6:c.5420T>C	ENSP00000419103.2:p.Ile1807Thr
ENST00000497488.2:c.4532T>C	ENSP00000418986.2:p.Ile1511Thr
ENST00000586385.5:c.350T>C	ENSP00000465818.1:p.Ile117Thr
ENST00000591534.5:c.893T>C	ENSP00000467329.1:p.Ile298Thr
ENST00000591849.5:c.119T>C	ENSP00000465347.1:p.Ile40Thr
ENST00000618469.2:c.5420T>C	ENSP00000478114.2:p.Ile1807Thr
ENST00000634433.2:c.5297T>C	ENSP00000489431.2:p.Ile1766Thr
ENST00000644379.1:c.1807T>C
ENST00000644379.2:c.5486T>C	ENSP00000496570.2:p.Ile1829Thr
ENST00000644555.2:c.1970T>C	ENSP00000494614.2:p.Ile657Thr
ENST00000652672.2:c.5279T>C	ENSP00000498906.2:p.Ile1760Thr
ENST00000700081.1:n.1303T>C
ENST00000700082.1:n.784T>C