Canonical Allele Identifier: CA10590739

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531438
• ClinVar RCV Id: RCV000637802 ; RCV001076846
• dbSNP Id: rs80357069
• MyVariant Identifiers: chr17:g.41201181C>G (hg19) ; chr17:g.43049164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049164C>G , CM000679.2:g.43049164C>G	GRCh38
NC_000017.10:g.41201181C>G , CM000679.1:g.41201181C>G	GRCh37
NC_000017.9:g.38454707C>G	NCBI36
NG_005905.2:g.168820G>C , LRG_292:g.168820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5360G>C	ENSP00000417241.2:p.Gly1787Ala
ENST00000470026.6:c.5363G>C	ENSP00000419274.2:p.Gly1788Ala
ENST00000473961.6:c.5237G>C	ENSP00000420201.2:p.Gly1746Ala
ENST00000476777.6:c.5357G>C	ENSP00000417554.2:p.Gly1786Ala
ENST00000477152.6:c.5285G>C	ENSP00000419988.2:p.Gly1762Ala
ENST00000478531.6:c.2051G>C	ENSP00000420412.2:p.Gly684Ala
ENST00000489037.2:c.5285G>C	ENSP00000420781.2:p.Gly1762Ala
ENST00000493919.6:c.1913G>C	ENSP00000418819.2:p.Gly638Ala
ENST00000494123.6:c.5363G>C	ENSP00000419103.2:p.Gly1788Ala
ENST00000497488.2:c.4475G>C	ENSP00000418986.2:p.Gly1492Ala
ENST00000618469.2:c.5363G>C	ENSP00000478114.2:p.Gly1788Ala
ENST00000634433.2:c.5240G>C	ENSP00000489431.2:p.Gly1747Ala
ENST00000644379.2:c.5429G>C	ENSP00000496570.2:p.Gly1810Ala
ENST00000644555.2:c.1913G>C	ENSP00000494614.2:p.Gly638Ala
ENST00000652672.2:c.5222G>C	ENSP00000498906.2:p.Gly1741Ala
ENST00000484087.6:c.1925G>C	ENSP00000419481.2:p.Gly642Ala
ENST00000700081.1:n.1246G>C
ENST00000357654.9:c.5363G>C MANE Select	ENSP00000350283.3:p.Gly1788Ala
ENST00000471181.7:c.5426G>C	ENSP00000418960.2:p.Gly1809Ala
ENST00000644379.1:c.1750G>C
ENST00000352993.7:c.1937G>C	ENSP00000312236.5:p.Gly646Ala
ENST00000357654.7:c.5363G>C	ENSP00000350283.3:p.Gly1788Ala
ENST00000461221.5:c.*5146G>C	ENSP00000418548.1:n.*5146G>C
ENST00000468300.5:c.2021-1461G>C	ENSP00000417148.1:n.2021-1461G>C
ENST00000471181.6:c.5426G>C	ENSP00000418960.2:p.Gly1809Ala
ENST00000491747.6:c.2051G>C	ENSP00000420705.2:p.Gly684Ala
ENST00000493795.5:c.5222G>C	ENSP00000418775.1:p.Gly1741Ala
ENST00000586385.5:c.293G>C	ENSP00000465818.1:p.Gly98Ala
ENST00000591534.5:c.836G>C	ENSP00000467329.1:p.Gly279Ala
ENST00000591849.5:c.62G>C	ENSP00000465347.1:p.Gly21Ala
NM_007294.3:c.5363G>C , LRG_292t1:c.5363G>C	NP_009225.1:p.Gly1788Ala
NM_007297.3:c.5222G>C	NP_009228.2:p.Gly1741Ala
NM_007298.3:c.2051G>C	NP_009229.2:p.Gly684Ala
NM_007299.3:c.2021-1461G>C	NP_009230.2:n.2021-1461G>C
NM_007300.3:c.5426G>C	NP_009231.2:p.Gly1809Ala
NR_027676.1:n.5499G>C
NM_007294.4:c.5363G>C MANE Select	NP_009225.1:p.Gly1788Ala
NM_007297.4:c.5222G>C	NP_009228.2:p.Gly1741Ala
NM_007299.4:c.2021-1461G>C	NP_009230.2:n.2021-1461G>C
NM_007300.4:c.5426G>C	NP_009231.2:p.Gly1809Ala
NR_027676.2:n.5540G>C