Canonical Allele Identifier: CA003705

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55621
• ClinVar RCV Id: RCV000112700 ; RCV000164404 ; RCV000496446 ; RCV000588004 ; RCV001081545 ; RCV001353496
• dbSNP Id: rs80356849
• gnomAD v4: 17-43045732-C-T
• MyVariant Identifiers: chr17:g.41197749C>T (hg19) ; chr17:g.43045732C>T (hg38)
• PubMed: PMID:10923033 ; PMID:12955716 ; PMID:16267036 ; PMID:22505045

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045732C>T , CM000679.2:g.43045732C>T	GRCh38
NC_000017.10:g.41197749C>T , CM000679.1:g.41197749C>T	GRCh37
NC_000017.9:g.38451275C>T	NCBI36
NG_005905.2:g.172252G>A , LRG_292:g.172252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5535G>A	ENSP00000417241.2:p.Gln1845=
ENST00000470026.6:c.5538G>A	ENSP00000419274.2:p.Gln1846=
ENST00000473961.6:c.5412G>A	ENSP00000420201.2:p.Gln1804=
ENST00000476777.6:c.5532G>A	ENSP00000417554.2:p.Gln1844=
ENST00000477152.6:c.5460G>A	ENSP00000419988.2:p.Gln1820=
ENST00000478531.6:c.2226G>A	ENSP00000420412.2:p.Gln742=
ENST00000489037.2:c.5460G>A	ENSP00000420781.2:p.Gln1820=
ENST00000493919.6:c.2088G>A	ENSP00000418819.2:p.Gln696=
ENST00000494123.6:c.5538G>A	ENSP00000419103.2:p.Gln1846=
ENST00000497488.2:c.4650G>A	ENSP00000418986.2:p.Gln1550=
ENST00000618469.2:c.5538G>A	ENSP00000478114.2:p.Gln1846=
ENST00000634433.2:c.5415G>A	ENSP00000489431.2:p.Gln1805=
ENST00000644379.2:c.5604G>A	ENSP00000496570.2:p.Gln1868=
ENST00000644555.2:c.2088G>A	ENSP00000494614.2:p.Gln696=
ENST00000652672.2:c.5397G>A	ENSP00000498906.2:p.Gln1799=
ENST00000484087.6:c.2100G>A	ENSP00000419481.2:p.Gln700=
ENST00000700081.1:n.1421G>A
ENST00000700082.1:n.902G>A
ENST00000357654.9:c.5538G>A MANE Select	ENSP00000350283.3:p.Gln1846=
ENST00000471181.7:c.5601G>A	ENSP00000418960.2:p.Gln1867=
ENST00000644379.1:c.1925G>A
ENST00000352993.7:c.2112G>A	ENSP00000312236.5:p.Gln704=
ENST00000357654.7:c.5538G>A	ENSP00000350283.3:p.Gln1846=
ENST00000461221.5:c.*5321G>A	ENSP00000418548.1:n.*5321G>A
ENST00000468300.5:c.*52G>A	ENSP00000417148.1:n.*52G>A
ENST00000471181.6:c.5601G>A	ENSP00000418960.2:p.Gln1867=
ENST00000491747.6:c.2226G>A	ENSP00000420705.2:p.Gln742=
ENST00000493795.5:c.5397G>A	ENSP00000418775.1:p.Gln1799=
ENST00000586385.5:c.468G>A	ENSP00000465818.1:p.Gln156=
ENST00000591534.5:c.1011G>A	ENSP00000467329.1:p.Gln337=
ENST00000591849.5:c.237G>A	ENSP00000465347.1:p.Gln79=
NM_007294.3:c.5538G>A , LRG_292t1:c.5538G>A	NP_009225.1:p.Gln1846=
NM_007297.3:c.5397G>A	NP_009228.2:p.Gln1799=
NM_007298.3:c.2226G>A	NP_009229.2:p.Gln742=
NM_007299.3:c.*52G>A	NP_009230.2:n.*52G>A
NM_007300.3:c.5601G>A	NP_009231.2:p.Gln1867=
NR_027676.1:n.5674G>A
NM_007294.4:c.5538G>A MANE Select	NP_009225.1:p.Gln1846=
NM_007297.4:c.5397G>A	NP_009228.2:p.Gln1799=
NM_007299.4:c.*52G>A	NP_009230.2:n.*52G>A
NM_007300.4:c.5601G>A	NP_009231.2:p.Gln1867=
NR_027676.2:n.5715G>A