Canonical Allele Identifier: CA10590396

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045799A>G , CM000679.2:g.43045799A>G	GRCh38
NC_000017.10:g.41197816A>G , CM000679.1:g.41197816A>G	GRCh37
NC_000017.9:g.38451342A>G	NCBI36
NG_005905.2:g.172185T>C , LRG_292:g.172185T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5471T>C MANE Select	NP_009225.1:p.Ile1824Thr
ENST00000357654.9:c.5471T>C MANE Select	ENSP00000350283.3:p.Ile1824Thr
NM_007294.3:c.5471T>C , LRG_292t1:c.5471T>C	NP_009225.1:p.Ile1824Thr
NM_007297.3:c.5330T>C	NP_009228.2:p.Ile1777Thr
NM_007297.4:c.5330T>C	NP_009228.2:p.Ile1777Thr
NM_007298.3:c.2159T>C	NP_009229.2:p.Ile720Thr
NM_007299.3:c.2085T>C	NP_009230.2:p.Asn695=
NM_007299.4:c.2085T>C	NP_009230.2:p.Asn695=
NM_007300.3:c.5534T>C	NP_009231.2:p.Ile1845Thr
NM_007300.4:c.5534T>C	NP_009231.2:p.Ile1845Thr
NR_027676.1:n.5607T>C
NR_027676.2:n.5648T>C
ENST00000352993.7:c.2045T>C	ENSP00000312236.5:p.Ile682Thr
ENST00000357654.7:c.5471T>C	ENSP00000350283.3:p.Ile1824Thr
ENST00000461221.5:c.*5254T>C	ENSP00000418548.1:n.*5254T>C
ENST00000461574.2:c.5468T>C	ENSP00000417241.2:p.Ile1823Thr
ENST00000468300.5:c.2085T>C	ENSP00000417148.1:p.Asn695=
ENST00000470026.6:c.5471T>C	ENSP00000419274.2:p.Ile1824Thr
ENST00000471181.6:c.5534T>C	ENSP00000418960.2:p.Ile1845Thr
ENST00000471181.7:c.5534T>C	ENSP00000418960.2:p.Ile1845Thr
ENST00000473961.6:c.5345T>C	ENSP00000420201.2:p.Ile1782Thr
ENST00000476777.6:c.5465T>C	ENSP00000417554.2:p.Ile1822Thr
ENST00000477152.6:c.5393T>C	ENSP00000419988.2:p.Ile1798Thr
ENST00000478531.6:c.2159T>C	ENSP00000420412.2:p.Ile720Thr
ENST00000484087.6:c.2033T>C	ENSP00000419481.2:p.Ile678Thr
ENST00000489037.2:c.5393T>C	ENSP00000420781.2:p.Ile1798Thr
ENST00000491747.6:c.2159T>C	ENSP00000420705.2:p.Ile720Thr
ENST00000493795.5:c.5330T>C	ENSP00000418775.1:p.Ile1777Thr
ENST00000493919.6:c.2021T>C	ENSP00000418819.2:p.Ile674Thr
ENST00000494123.6:c.5471T>C	ENSP00000419103.2:p.Ile1824Thr
ENST00000497488.2:c.4583T>C	ENSP00000418986.2:p.Ile1528Thr
ENST00000586385.5:c.401T>C	ENSP00000465818.1:p.Ile134Thr
ENST00000591534.5:c.944T>C	ENSP00000467329.1:p.Ile315Thr
ENST00000591849.5:c.170T>C	ENSP00000465347.1:p.Ile57Thr
ENST00000618469.2:c.5471T>C	ENSP00000478114.2:p.Ile1824Thr
ENST00000634433.2:c.5348T>C	ENSP00000489431.2:p.Ile1783Thr
ENST00000644379.1:c.1858T>C
ENST00000644379.2:c.5537T>C	ENSP00000496570.2:p.Ile1846Thr
ENST00000644555.2:c.2021T>C	ENSP00000494614.2:p.Ile674Thr
ENST00000652672.2:c.5330T>C	ENSP00000498906.2:p.Ile1777Thr
ENST00000700081.1:n.1354T>C
ENST00000700082.1:n.835T>C