Canonical Allele Identifier: CA500143280

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427287
• ClinVar RCV Id: RCV000495237 ; RCV001430210
• dbSNP Id: rs1131692096
• gnomAD v4: 17-43049130-G-A
• MyVariant Identifiers: chr17:g.41201147G>A (hg19) ; chr17:g.43049130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049130G>A , CM000679.2:g.43049130G>A	GRCh38
NC_000017.10:g.41201147G>A , CM000679.1:g.41201147G>A	GRCh37
NC_000017.9:g.38454673G>A	NCBI36
NG_005905.2:g.168854C>T , LRG_292:g.168854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5394C>T	ENSP00000417241.2:p.Thr1798=
ENST00000470026.6:c.5397C>T	ENSP00000419274.2:p.Thr1799=
ENST00000473961.6:c.5271C>T	ENSP00000420201.2:p.Thr1757=
ENST00000476777.6:c.5391C>T	ENSP00000417554.2:p.Thr1797=
ENST00000477152.6:c.5319C>T	ENSP00000419988.2:p.Thr1773=
ENST00000478531.6:c.2085C>T	ENSP00000420412.2:p.Thr695=
ENST00000489037.2:c.5319C>T	ENSP00000420781.2:p.Thr1773=
ENST00000493919.6:c.1947C>T	ENSP00000418819.2:p.Thr649=
ENST00000494123.6:c.5397C>T	ENSP00000419103.2:p.Thr1799=
ENST00000497488.2:c.4509C>T	ENSP00000418986.2:p.Thr1503=
ENST00000618469.2:c.5397C>T	ENSP00000478114.2:p.Thr1799=
ENST00000634433.2:c.5274C>T	ENSP00000489431.2:p.Thr1758=
ENST00000644379.2:c.5463C>T	ENSP00000496570.2:p.Thr1821=
ENST00000644555.2:c.1947C>T	ENSP00000494614.2:p.Thr649=
ENST00000652672.2:c.5256C>T	ENSP00000498906.2:p.Thr1752=
ENST00000484087.6:c.1959C>T	ENSP00000419481.2:p.Thr653=
ENST00000700081.1:n.1280C>T
ENST00000357654.9:c.5397C>T MANE Select	ENSP00000350283.3:p.Thr1799=
ENST00000471181.7:c.5460C>T	ENSP00000418960.2:p.Thr1820=
ENST00000644379.1:c.1784C>T
ENST00000352993.7:c.1971C>T	ENSP00000312236.5:p.Thr657=
ENST00000357654.7:c.5397C>T	ENSP00000350283.3:p.Thr1799=
ENST00000461221.5:c.*5180C>T	ENSP00000418548.1:n.*5180C>T
ENST00000468300.5:c.2021-1427C>T	ENSP00000417148.1:n.2021-1427C>T
ENST00000471181.6:c.5460C>T	ENSP00000418960.2:p.Thr1820=
ENST00000491747.6:c.2085C>T	ENSP00000420705.2:p.Thr695=
ENST00000493795.5:c.5256C>T	ENSP00000418775.1:p.Thr1752=
ENST00000586385.5:c.327C>T	ENSP00000465818.1:p.Thr109=
ENST00000591534.5:c.870C>T	ENSP00000467329.1:p.Thr290=
ENST00000591849.5:c.96C>T	ENSP00000465347.1:p.Thr32=
NM_007294.3:c.5397C>T , LRG_292t1:c.5397C>T	NP_009225.1:p.Thr1799=
NM_007297.3:c.5256C>T	NP_009228.2:p.Thr1752=
NM_007298.3:c.2085C>T	NP_009229.2:p.Thr695=
NM_007299.3:c.2021-1427C>T	NP_009230.2:n.2021-1427C>T
NM_007300.3:c.5460C>T	NP_009231.2:p.Thr1820=
NR_027676.1:n.5533C>T
NM_007294.4:c.5397C>T MANE Select	NP_009225.1:p.Thr1799=
NM_007297.4:c.5256C>T	NP_009228.2:p.Thr1752=
NM_007299.4:c.2021-1427C>T	NP_009230.2:n.2021-1427C>T
NM_007300.4:c.5460C>T	NP_009231.2:p.Thr1820=
NR_027676.2:n.5574C>T