Canonical Allele Identifier: CA10590196

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 482917
• ClinVar RCV Id: RCV000567198 ; RCV001316745 ; RCV001077623
• dbSNP Id: rs900082291
• MyVariant Identifiers: chr17:g.41197723A>G (hg19) ; chr17:g.43045706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045706A>G , CM000679.2:g.43045706A>G	GRCh38
NC_000017.10:g.41197723A>G , CM000679.1:g.41197723A>G	GRCh37
NC_000017.9:g.38451249A>G	NCBI36
NG_005905.2:g.172278T>C , LRG_292:g.172278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5561T>C	ENSP00000417241.2:p.Ile1854Thr
ENST00000470026.6:c.5564T>C	ENSP00000419274.2:p.Ile1855Thr
ENST00000473961.6:c.5438T>C	ENSP00000420201.2:p.Ile1813Thr
ENST00000476777.6:c.5558T>C	ENSP00000417554.2:p.Ile1853Thr
ENST00000477152.6:c.5486T>C	ENSP00000419988.2:p.Ile1829Thr
ENST00000478531.6:c.2252T>C	ENSP00000420412.2:p.Ile751Thr
ENST00000489037.2:c.5486T>C	ENSP00000420781.2:p.Ile1829Thr
ENST00000493919.6:c.2114T>C	ENSP00000418819.2:p.Ile705Thr
ENST00000494123.6:c.5564T>C	ENSP00000419103.2:p.Ile1855Thr
ENST00000497488.2:c.4676T>C	ENSP00000418986.2:p.Ile1559Thr
ENST00000618469.2:c.5564T>C	ENSP00000478114.2:p.Ile1855Thr
ENST00000634433.2:c.5441T>C	ENSP00000489431.2:p.Ile1814Thr
ENST00000644379.2:c.5630T>C	ENSP00000496570.2:p.Ile1877Thr
ENST00000644555.2:c.2114T>C	ENSP00000494614.2:p.Ile705Thr
ENST00000652672.2:c.5423T>C	ENSP00000498906.2:p.Ile1808Thr
ENST00000484087.6:c.2126T>C	ENSP00000419481.2:p.Ile709Thr
ENST00000700081.1:n.1447T>C
ENST00000700082.1:n.928T>C
ENST00000357654.9:c.5564T>C MANE Select	ENSP00000350283.3:p.Ile1855Thr
ENST00000471181.7:c.5627T>C	ENSP00000418960.2:p.Ile1876Thr
ENST00000644379.1:c.1951T>C
ENST00000352993.7:c.2138T>C	ENSP00000312236.5:p.Ile713Thr
ENST00000357654.7:c.5564T>C	ENSP00000350283.3:p.Ile1855Thr
ENST00000461221.5:c.*5347T>C	ENSP00000418548.1:n.*5347T>C
ENST00000468300.5:c.*78T>C	ENSP00000417148.1:n.*78T>C
ENST00000471181.6:c.5627T>C	ENSP00000418960.2:p.Ile1876Thr
ENST00000491747.6:c.2252T>C	ENSP00000420705.2:p.Ile751Thr
ENST00000493795.5:c.5423T>C	ENSP00000418775.1:p.Ile1808Thr
ENST00000586385.5:c.494T>C	ENSP00000465818.1:p.Ile165Thr
ENST00000591534.5:c.1037T>C	ENSP00000467329.1:p.Ile346Thr
ENST00000591849.5:c.263T>C	ENSP00000465347.1:p.Ile88Thr
NM_007294.3:c.5564T>C , LRG_292t1:c.5564T>C	NP_009225.1:p.Ile1855Thr
NM_007297.3:c.5423T>C	NP_009228.2:p.Ile1808Thr
NM_007298.3:c.2252T>C	NP_009229.2:p.Ile751Thr
NM_007299.3:c.*78T>C	NP_009230.2:n.*78T>C
NM_007300.3:c.5627T>C	NP_009231.2:p.Ile1876Thr
NR_027676.1:n.5700T>C
NM_007294.4:c.5564T>C MANE Select	NP_009225.1:p.Ile1855Thr
NM_007297.4:c.5423T>C	NP_009228.2:p.Ile1808Thr
NM_007299.4:c.*78T>C	NP_009230.2:n.*78T>C
NM_007300.4:c.5627T>C	NP_009231.2:p.Ile1876Thr
NR_027676.2:n.5741T>C