Canonical Allele Identifier: CA500143311

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462671
• ClinVar RCV Id: RCV000548909 ; RCV001072779
• dbSNP Id: rs1555575167
• MyVariant Identifiers: chr17:g.41201188G>A (hg19) ; chr17:g.43049171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049171G>A , CM000679.2:g.43049171G>A	GRCh38
NC_000017.10:g.41201188G>A , CM000679.1:g.41201188G>A	GRCh37
NC_000017.9:g.38454714G>A	NCBI36
NG_005905.2:g.168813C>T , LRG_292:g.168813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5353C>T	ENSP00000417241.2:p.Leu1785=
ENST00000470026.6:c.5356C>T	ENSP00000419274.2:p.Leu1786=
ENST00000473961.6:c.5230C>T	ENSP00000420201.2:p.Leu1744=
ENST00000476777.6:c.5350C>T	ENSP00000417554.2:p.Leu1784=
ENST00000477152.6:c.5278C>T	ENSP00000419988.2:p.Leu1760=
ENST00000478531.6:c.2044C>T	ENSP00000420412.2:p.Leu682=
ENST00000489037.2:c.5278C>T	ENSP00000420781.2:p.Leu1760=
ENST00000493919.6:c.1906C>T	ENSP00000418819.2:p.Leu636=
ENST00000494123.6:c.5356C>T	ENSP00000419103.2:p.Leu1786=
ENST00000497488.2:c.4468C>T	ENSP00000418986.2:p.Leu1490=
ENST00000618469.2:c.5356C>T	ENSP00000478114.2:p.Leu1786=
ENST00000634433.2:c.5233C>T	ENSP00000489431.2:p.Leu1745=
ENST00000644379.2:c.5422C>T	ENSP00000496570.2:p.Leu1808=
ENST00000644555.2:c.1906C>T	ENSP00000494614.2:p.Leu636=
ENST00000652672.2:c.5215C>T	ENSP00000498906.2:p.Leu1739=
ENST00000484087.6:c.1918C>T	ENSP00000419481.2:p.Leu640=
ENST00000700081.1:n.1239C>T
ENST00000357654.9:c.5356C>T MANE Select	ENSP00000350283.3:p.Leu1786=
ENST00000471181.7:c.5419C>T	ENSP00000418960.2:p.Leu1807=
ENST00000644379.1:c.1743C>T
ENST00000352993.7:c.1930C>T	ENSP00000312236.5:p.Leu644=
ENST00000357654.7:c.5356C>T	ENSP00000350283.3:p.Leu1786=
ENST00000461221.5:c.*5139C>T	ENSP00000418548.1:n.*5139C>T
ENST00000468300.5:c.2021-1468C>T	ENSP00000417148.1:n.2021-1468C>T
ENST00000471181.6:c.5419C>T	ENSP00000418960.2:p.Leu1807=
ENST00000491747.6:c.2044C>T	ENSP00000420705.2:p.Leu682=
ENST00000493795.5:c.5215C>T	ENSP00000418775.1:p.Leu1739=
ENST00000586385.5:c.286C>T	ENSP00000465818.1:p.Leu96=
ENST00000591534.5:c.829C>T	ENSP00000467329.1:p.Leu277=
ENST00000591849.5:c.55C>T	ENSP00000465347.1:p.Leu19=
NM_007294.3:c.5356C>T , LRG_292t1:c.5356C>T	NP_009225.1:p.Leu1786=
NM_007297.3:c.5215C>T	NP_009228.2:p.Leu1739=
NM_007298.3:c.2044C>T	NP_009229.2:p.Leu682=
NM_007299.3:c.2021-1468C>T	NP_009230.2:n.2021-1468C>T
NM_007300.3:c.5419C>T	NP_009231.2:p.Leu1807=
NR_027676.1:n.5492C>T
NM_007294.4:c.5356C>T MANE Select	NP_009225.1:p.Leu1786=
NM_007297.4:c.5215C>T	NP_009228.2:p.Leu1739=
NM_007299.4:c.2021-1468C>T	NP_009230.2:n.2021-1468C>T
NM_007300.4:c.5419C>T	NP_009231.2:p.Leu1807=
NR_027676.2:n.5533C>T