Canonical Allele Identifier: CA003519

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55546
• ClinVar RCV Id: RCV000048955 ; RCV000077618 ; RCV000236216 ; RCV000223567 ; RCV001353874
• dbSNP Id: rs80356969
• gnomAD v4: 17-43049174-G-A
• MyVariant Identifiers: chr17:g.41201191G>A (hg19) ; chr17:g.43049174G>A (hg38)
• PubMed: PMID:16683254 ; PMID:17925560 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049174G>A , CM000679.2:g.43049174G>A	GRCh38
NC_000017.10:g.41201191G>A , CM000679.1:g.41201191G>A	GRCh37
NC_000017.9:g.38454717G>A	NCBI36
NG_005905.2:g.168810C>T , LRG_292:g.168810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5350C>T	ENSP00000417241.2:p.Gln1784Ter
ENST00000470026.6:c.5353C>T	ENSP00000419274.2:p.Gln1785Ter
ENST00000473961.6:c.5227C>T	ENSP00000420201.2:p.Gln1743Ter
ENST00000476777.6:c.5347C>T	ENSP00000417554.2:p.Gln1783Ter
ENST00000477152.6:c.5275C>T	ENSP00000419988.2:p.Gln1759Ter
ENST00000478531.6:c.2041C>T	ENSP00000420412.2:p.Gln681Ter
ENST00000489037.2:c.5275C>T	ENSP00000420781.2:p.Gln1759Ter
ENST00000493919.6:c.1903C>T	ENSP00000418819.2:p.Gln635Ter
ENST00000494123.6:c.5353C>T	ENSP00000419103.2:p.Gln1785Ter
ENST00000497488.2:c.4465C>T	ENSP00000418986.2:p.Gln1489Ter
ENST00000618469.2:c.5353C>T	ENSP00000478114.2:p.Gln1785Ter
ENST00000634433.2:c.5230C>T	ENSP00000489431.2:p.Gln1744Ter
ENST00000644379.2:c.5419C>T	ENSP00000496570.2:p.Gln1807Ter
ENST00000644555.2:c.1903C>T	ENSP00000494614.2:p.Gln635Ter
ENST00000652672.2:c.5212C>T	ENSP00000498906.2:p.Gln1738Ter
ENST00000484087.6:c.1915C>T	ENSP00000419481.2:p.Gln639Ter
ENST00000700081.1:n.1236C>T
ENST00000357654.9:c.5353C>T MANE Select	ENSP00000350283.3:p.Gln1785Ter
ENST00000471181.7:c.5416C>T	ENSP00000418960.2:p.Gln1806Ter
ENST00000644379.1:c.1740C>T
ENST00000352993.7:c.1927C>T	ENSP00000312236.5:p.Gln643Ter
ENST00000357654.7:c.5353C>T	ENSP00000350283.3:p.Gln1785Ter
ENST00000461221.5:c.*5136C>T	ENSP00000418548.1:n.*5136C>T
ENST00000468300.5:c.2021-1471C>T	ENSP00000417148.1:n.2021-1471C>T
ENST00000471181.6:c.5416C>T	ENSP00000418960.2:p.Gln1806Ter
ENST00000491747.6:c.2041C>T	ENSP00000420705.2:p.Gln681Ter
ENST00000493795.5:c.5212C>T	ENSP00000418775.1:p.Gln1738Ter
ENST00000586385.5:c.283C>T	ENSP00000465818.1:p.Gln95Ter
ENST00000591534.5:c.826C>T	ENSP00000467329.1:p.Gln276Ter
ENST00000591849.5:c.52C>T	ENSP00000465347.1:p.Gln18Ter
NM_007294.3:c.5353C>T , LRG_292t1:c.5353C>T	NP_009225.1:p.Gln1785Ter
NM_007297.3:c.5212C>T	NP_009228.2:p.Gln1738Ter
NM_007298.3:c.2041C>T	NP_009229.2:p.Gln681Ter
NM_007299.3:c.2021-1471C>T	NP_009230.2:n.2021-1471C>T
NM_007300.3:c.5416C>T	NP_009231.2:p.Gln1806Ter
NR_027676.1:n.5489C>T
NM_007294.4:c.5353C>T MANE Select	NP_009225.1:p.Gln1785Ter
NM_007297.4:c.5212C>T	NP_009228.2:p.Gln1738Ter
NM_007299.4:c.2021-1471C>T	NP_009230.2:n.2021-1471C>T
NM_007300.4:c.5416C>T	NP_009231.2:p.Gln1806Ter
NR_027676.2:n.5530C>T