Canonical Allele Identifier: CA10590361

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 864923
• ClinVar RCV Id: RCV001072221 ; RCV002295326
• dbSNP Id: rs2050886535
• MyVariant Identifiers: chr17:g.41197807A>G (hg19) ; chr17:g.43045790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045790A>G , CM000679.2:g.43045790A>G	GRCh38
NC_000017.10:g.41197807A>G , CM000679.1:g.41197807A>G	GRCh37
NC_000017.9:g.38451333A>G	NCBI36
NG_005905.2:g.172194T>C , LRG_292:g.172194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5477T>C	ENSP00000417241.2:p.Met1826Thr
ENST00000470026.6:c.5480T>C	ENSP00000419274.2:p.Met1827Thr
ENST00000473961.6:c.5354T>C	ENSP00000420201.2:p.Met1785Thr
ENST00000476777.6:c.5474T>C	ENSP00000417554.2:p.Met1825Thr
ENST00000477152.6:c.5402T>C	ENSP00000419988.2:p.Met1801Thr
ENST00000478531.6:c.2168T>C	ENSP00000420412.2:p.Met723Thr
ENST00000489037.2:c.5402T>C	ENSP00000420781.2:p.Met1801Thr
ENST00000493919.6:c.2030T>C	ENSP00000418819.2:p.Met677Thr
ENST00000494123.6:c.5480T>C	ENSP00000419103.2:p.Met1827Thr
ENST00000497488.2:c.4592T>C	ENSP00000418986.2:p.Met1531Thr
ENST00000618469.2:c.5480T>C	ENSP00000478114.2:p.Met1827Thr
ENST00000634433.2:c.5357T>C	ENSP00000489431.2:p.Met1786Thr
ENST00000644379.2:c.5546T>C	ENSP00000496570.2:p.Met1849Thr
ENST00000644555.2:c.2030T>C	ENSP00000494614.2:p.Met677Thr
ENST00000652672.2:c.5339T>C	ENSP00000498906.2:p.Met1780Thr
ENST00000484087.6:c.2042T>C	ENSP00000419481.2:p.Met681Thr
ENST00000700081.1:n.1363T>C
ENST00000700082.1:n.844T>C
ENST00000357654.9:c.5480T>C MANE Select	ENSP00000350283.3:p.Met1827Thr
ENST00000471181.7:c.5543T>C	ENSP00000418960.2:p.Met1848Thr
ENST00000644379.1:c.1867T>C
ENST00000352993.7:c.2054T>C	ENSP00000312236.5:p.Met685Thr
ENST00000357654.7:c.5480T>C	ENSP00000350283.3:p.Met1827Thr
ENST00000461221.5:c.*5263T>C	ENSP00000418548.1:n.*5263T>C
ENST00000468300.5:c.2094T>C	ENSP00000417148.1:p.Asp698=
ENST00000471181.6:c.5543T>C	ENSP00000418960.2:p.Met1848Thr
ENST00000491747.6:c.2168T>C	ENSP00000420705.2:p.Met723Thr
ENST00000493795.5:c.5339T>C	ENSP00000418775.1:p.Met1780Thr
ENST00000586385.5:c.410T>C	ENSP00000465818.1:p.Met137Thr
ENST00000591534.5:c.953T>C	ENSP00000467329.1:p.Met318Thr
ENST00000591849.5:c.179T>C	ENSP00000465347.1:p.Met60Thr
NM_007294.3:c.5480T>C , LRG_292t1:c.5480T>C	NP_009225.1:p.Met1827Thr
NM_007297.3:c.5339T>C	NP_009228.2:p.Met1780Thr
NM_007298.3:c.2168T>C	NP_009229.2:p.Met723Thr
NM_007299.3:c.2094T>C	NP_009230.2:p.Asp698=
NM_007300.3:c.5543T>C	NP_009231.2:p.Met1848Thr
NR_027676.1:n.5616T>C
NM_007294.4:c.5480T>C MANE Select	NP_009225.1:p.Met1827Thr
NM_007297.4:c.5339T>C	NP_009228.2:p.Met1780Thr
NM_007299.4:c.2094T>C	NP_009230.2:p.Asp698=
NM_007300.4:c.5543T>C	NP_009231.2:p.Met1848Thr
NR_027676.2:n.5657T>C