Canonical Allele Identifier: CA10590472

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868510
• ClinVar RCV Id: RCV001077424
• dbSNP Id: rs2050979993
• MyVariant Identifiers: chr17:g.41199672T>C (hg19) ; chr17:g.43047655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047655T>C , CM000679.2:g.43047655T>C	GRCh38
NC_000017.10:g.41199672T>C , CM000679.1:g.41199672T>C	GRCh37
NC_000017.9:g.38453198T>C	NCBI36
NG_005905.2:g.170329A>G , LRG_292:g.170329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5452A>G	ENSP00000417241.2:p.Asn1818Asp
ENST00000470026.6:c.5455A>G	ENSP00000419274.2:p.Asn1819Asp
ENST00000473961.6:c.5329A>G	ENSP00000420201.2:p.Asn1777Asp
ENST00000476777.6:c.5449A>G	ENSP00000417554.2:p.Asn1817Asp
ENST00000477152.6:c.5377A>G	ENSP00000419988.2:p.Asn1793Asp
ENST00000478531.6:c.2143A>G	ENSP00000420412.2:p.Asn715Asp
ENST00000489037.2:c.5377A>G	ENSP00000420781.2:p.Asn1793Asp
ENST00000493919.6:c.2005A>G	ENSP00000418819.2:p.Asn669Asp
ENST00000494123.6:c.5455A>G	ENSP00000419103.2:p.Asn1819Asp
ENST00000497488.2:c.4567A>G	ENSP00000418986.2:p.Asn1523Asp
ENST00000618469.2:c.5455A>G	ENSP00000478114.2:p.Asn1819Asp
ENST00000634433.2:c.5332A>G	ENSP00000489431.2:p.Asn1778Asp
ENST00000644379.2:c.5521A>G	ENSP00000496570.2:p.Asn1841Asp
ENST00000644555.2:c.2005A>G	ENSP00000494614.2:p.Asn669Asp
ENST00000652672.2:c.5314A>G	ENSP00000498906.2:p.Asn1772Asp
ENST00000484087.6:c.2017A>G	ENSP00000419481.2:p.Asn673Asp
ENST00000700081.1:n.1338A>G
ENST00000700082.1:n.819A>G
ENST00000357654.9:c.5455A>G MANE Select	ENSP00000350283.3:p.Asn1819Asp
ENST00000471181.7:c.5518A>G	ENSP00000418960.2:p.Asn1840Asp
ENST00000644379.1:c.1842A>G
ENST00000352993.7:c.2029A>G	ENSP00000312236.5:p.Asn677Asp
ENST00000357654.7:c.5455A>G	ENSP00000350283.3:p.Asn1819Asp
ENST00000461221.5:c.*5238A>G	ENSP00000418548.1:n.*5238A>G
ENST00000468300.5:c.2069A>G	ENSP00000417148.1:p.Gln690Arg
ENST00000471181.6:c.5518A>G	ENSP00000418960.2:p.Asn1840Asp
ENST00000491747.6:c.2143A>G	ENSP00000420705.2:p.Asn715Asp
ENST00000493795.5:c.5314A>G	ENSP00000418775.1:p.Asn1772Asp
ENST00000586385.5:c.385A>G	ENSP00000465818.1:p.Asn129Asp
ENST00000591534.5:c.928A>G	ENSP00000467329.1:p.Asn310Asp
ENST00000591849.5:c.154A>G	ENSP00000465347.1:p.Asn52Asp
NM_007294.3:c.5455A>G , LRG_292t1:c.5455A>G	NP_009225.1:p.Asn1819Asp
NM_007297.3:c.5314A>G	NP_009228.2:p.Asn1772Asp
NM_007298.3:c.2143A>G	NP_009229.2:p.Asn715Asp
NM_007299.3:c.2069A>G	NP_009230.2:p.Gln690Arg
NM_007300.3:c.5518A>G	NP_009231.2:p.Asn1840Asp
NR_027676.1:n.5591A>G
NM_007294.4:c.5455A>G MANE Select	NP_009225.1:p.Asn1819Asp
NM_007297.4:c.5314A>G	NP_009228.2:p.Asn1772Asp
NM_007299.4:c.2069A>G	NP_009230.2:p.Gln690Arg
NM_007300.4:c.5518A>G	NP_009231.2:p.Asn1840Asp
NR_027676.2:n.5632A>G