Canonical Allele Identifier: CA003593

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55577
• ClinVar RCV Id: RCV000235642 ; RCV000238731 ; RCV000779877 ; RCV001024097 ; RCV003332111
• dbSNP Id: rs397509283
• gnomAD v4: 17-43047679-G-A
• MyVariant Identifiers: chr17:g.41199696G>A (hg19) ; chr17:g.43047679G>A (hg38)
• PubMed: PMID:10644434 ; PMID:11773283 ; PMID:22434525 ; PMID:24010542 ; PMID:25452441 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047679G>A , CM000679.2:g.43047679G>A	GRCh38
NC_000017.10:g.41199696G>A , CM000679.1:g.41199696G>A	GRCh37
NC_000017.9:g.38453222G>A	NCBI36
NG_005905.2:g.170305C>T , LRG_292:g.170305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5428C>T	ENSP00000417241.2:p.Gln1810Ter
ENST00000470026.6:c.5431C>T	ENSP00000419274.2:p.Gln1811Ter
ENST00000473961.6:c.5305C>T	ENSP00000420201.2:p.Gln1769Ter
ENST00000476777.6:c.5425C>T	ENSP00000417554.2:p.Gln1809Ter
ENST00000477152.6:c.5353C>T	ENSP00000419988.2:p.Gln1785Ter
ENST00000478531.6:c.2119C>T	ENSP00000420412.2:p.Gln707Ter
ENST00000489037.2:c.5353C>T	ENSP00000420781.2:p.Gln1785Ter
ENST00000493919.6:c.1981C>T	ENSP00000418819.2:p.Gln661Ter
ENST00000494123.6:c.5431C>T	ENSP00000419103.2:p.Gln1811Ter
ENST00000497488.2:c.4543C>T	ENSP00000418986.2:p.Gln1515Ter
ENST00000618469.2:c.5431C>T	ENSP00000478114.2:p.Gln1811Ter
ENST00000634433.2:c.5308C>T	ENSP00000489431.2:p.Gln1770Ter
ENST00000644379.2:c.5497C>T	ENSP00000496570.2:p.Gln1833Ter
ENST00000644555.2:c.1981C>T	ENSP00000494614.2:p.Gln661Ter
ENST00000652672.2:c.5290C>T	ENSP00000498906.2:p.Gln1764Ter
ENST00000484087.6:c.1993C>T	ENSP00000419481.2:p.Gln665Ter
ENST00000700081.1:n.1314C>T
ENST00000700082.1:n.795C>T
ENST00000357654.9:c.5431C>T MANE Select	ENSP00000350283.3:p.Gln1811Ter
ENST00000471181.7:c.5494C>T	ENSP00000418960.2:p.Gln1832Ter
ENST00000644379.1:c.1818C>T
ENST00000352993.7:c.2005C>T	ENSP00000312236.5:p.Gln669Ter
ENST00000357654.7:c.5431C>T	ENSP00000350283.3:p.Gln1811Ter
ENST00000461221.5:c.*5214C>T	ENSP00000418548.1:n.*5214C>T
ENST00000468300.5:c.2045C>T	ENSP00000417148.1:p.Ala682Val
ENST00000471181.6:c.5494C>T	ENSP00000418960.2:p.Gln1832Ter
ENST00000491747.6:c.2119C>T	ENSP00000420705.2:p.Gln707Ter
ENST00000493795.5:c.5290C>T	ENSP00000418775.1:p.Gln1764Ter
ENST00000586385.5:c.361C>T	ENSP00000465818.1:p.Gln121Ter
ENST00000591534.5:c.904C>T	ENSP00000467329.1:p.Gln302Ter
ENST00000591849.5:c.130C>T	ENSP00000465347.1:p.Gln44Ter
NM_007294.3:c.5431C>T , LRG_292t1:c.5431C>T	NP_009225.1:p.Gln1811Ter
NM_007297.3:c.5290C>T	NP_009228.2:p.Gln1764Ter
NM_007298.3:c.2119C>T	NP_009229.2:p.Gln707Ter
NM_007299.3:c.2045C>T	NP_009230.2:p.Ala682Val
NM_007300.3:c.5494C>T	NP_009231.2:p.Gln1832Ter
NR_027676.1:n.5567C>T
NM_007294.4:c.5431C>T MANE Select	NP_009225.1:p.Gln1811Ter
NM_007297.4:c.5290C>T	NP_009228.2:p.Gln1764Ter
NM_007299.4:c.2045C>T	NP_009230.2:p.Ala682Val
NM_007300.4:c.5494C>T	NP_009231.2:p.Gln1832Ter
NR_027676.2:n.5608C>T