Canonical Allele Identifier: CA003533

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55553
• ClinVar RCV Id: RCV000112629 ; RCV000580957 ; RCV001853023 ; RCV004017357 ; RCV001689610
• dbSNP Id: rs80357078
• gnomAD v4: 17-43049162-C-A
• MyVariant Identifiers: chr17:g.41201179C>A (hg19) ; chr17:g.43049162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049162C>A , CM000679.2:g.43049162C>A	GRCh38
NC_000017.10:g.41201179C>A , CM000679.1:g.41201179C>A	GRCh37
NC_000017.9:g.38454705C>A	NCBI36
NG_005905.2:g.168822G>T , LRG_292:g.168822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5362G>T	ENSP00000417241.2:p.Ala1788Ser
ENST00000470026.6:c.5365G>T	ENSP00000419274.2:p.Ala1789Ser
ENST00000473961.6:c.5239G>T	ENSP00000420201.2:p.Ala1747Ser
ENST00000476777.6:c.5359G>T	ENSP00000417554.2:p.Ala1787Ser
ENST00000477152.6:c.5287G>T	ENSP00000419988.2:p.Ala1763Ser
ENST00000478531.6:c.2053G>T	ENSP00000420412.2:p.Ala685Ser
ENST00000489037.2:c.5287G>T	ENSP00000420781.2:p.Ala1763Ser
ENST00000493919.6:c.1915G>T	ENSP00000418819.2:p.Ala639Ser
ENST00000494123.6:c.5365G>T	ENSP00000419103.2:p.Ala1789Ser
ENST00000497488.2:c.4477G>T	ENSP00000418986.2:p.Ala1493Ser
ENST00000618469.2:c.5365G>T	ENSP00000478114.2:p.Ala1789Ser
ENST00000634433.2:c.5242G>T	ENSP00000489431.2:p.Ala1748Ser
ENST00000644379.2:c.5431G>T	ENSP00000496570.2:p.Ala1811Ser
ENST00000644555.2:c.1915G>T	ENSP00000494614.2:p.Ala639Ser
ENST00000652672.2:c.5224G>T	ENSP00000498906.2:p.Ala1742Ser
ENST00000484087.6:c.1927G>T	ENSP00000419481.2:p.Ala643Ser
ENST00000700081.1:n.1248G>T
ENST00000357654.9:c.5365G>T MANE Select	ENSP00000350283.3:p.Ala1789Ser
ENST00000471181.7:c.5428G>T	ENSP00000418960.2:p.Ala1810Ser
ENST00000644379.1:c.1752G>T
ENST00000352993.7:c.1939G>T	ENSP00000312236.5:p.Ala647Ser
ENST00000357654.7:c.5365G>T	ENSP00000350283.3:p.Ala1789Ser
ENST00000461221.5:c.*5148G>T	ENSP00000418548.1:n.*5148G>T
ENST00000468300.5:c.2021-1459G>T	ENSP00000417148.1:n.2021-1459G>T
ENST00000471181.6:c.5428G>T	ENSP00000418960.2:p.Ala1810Ser
ENST00000491747.6:c.2053G>T	ENSP00000420705.2:p.Ala685Ser
ENST00000493795.5:c.5224G>T	ENSP00000418775.1:p.Ala1742Ser
ENST00000586385.5:c.295G>T	ENSP00000465818.1:p.Ala99Ser
ENST00000591534.5:c.838G>T	ENSP00000467329.1:p.Ala280Ser
ENST00000591849.5:c.64G>T	ENSP00000465347.1:p.Ala22Ser
NM_007294.3:c.5365G>T , LRG_292t1:c.5365G>T	NP_009225.1:p.Ala1789Ser
NM_007297.3:c.5224G>T	NP_009228.2:p.Ala1742Ser
NM_007298.3:c.2053G>T	NP_009229.2:p.Ala685Ser
NM_007299.3:c.2021-1459G>T	NP_009230.2:n.2021-1459G>T
NM_007300.3:c.5428G>T	NP_009231.2:p.Ala1810Ser
NR_027676.1:n.5501G>T
NM_007294.4:c.5365G>T MANE Select	NP_009225.1:p.Ala1789Ser
NM_007297.4:c.5224G>T	NP_009228.2:p.Ala1742Ser
NM_007299.4:c.2021-1459G>T	NP_009230.2:n.2021-1459G>T
NM_007300.4:c.5428G>T	NP_009231.2:p.Ala1810Ser
NR_027676.2:n.5542G>T