Canonical Allele Identifier: CA003508

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55541
• ClinVar RCV Id: RCV000048948 ; RCV000112624 ; RCV000132201 ; RCV000236823
• dbSNP Id: rs80357474
• gnomAD v2: 17-41201205-A-G
• gnomAD v4: 17-43049188-A-G
• MyVariant Identifiers: chr17:g.41201205A>G (hg19) ; chr17:g.43049188A>G (hg38)
• PubMed: PMID:15117986 ; PMID:15235020 ; PMID:17100994 ; PMID:20378548 ; PMID:20516115 ; PMID:22217648 ; PMID:27658390 ; PMID:28111427

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049188A>G , CM000679.2:g.43049188A>G	GRCh38
NC_000017.10:g.41201205A>G , CM000679.1:g.41201205A>G	GRCh37
NC_000017.9:g.38454731A>G	NCBI36
NG_005905.2:g.168796T>C , LRG_292:g.168796T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5336T>C	ENSP00000417241.2:p.Leu1779Pro
ENST00000470026.6:c.5339T>C	ENSP00000419274.2:p.Leu1780Pro
ENST00000473961.6:c.5213T>C	ENSP00000420201.2:p.Leu1738Pro
ENST00000476777.6:c.5333T>C	ENSP00000417554.2:p.Leu1778Pro
ENST00000477152.6:c.5261T>C	ENSP00000419988.2:p.Leu1754Pro
ENST00000478531.6:c.2027T>C	ENSP00000420412.2:p.Leu676Pro
ENST00000489037.2:c.5261T>C	ENSP00000420781.2:p.Leu1754Pro
ENST00000493919.6:c.1889T>C	ENSP00000418819.2:p.Leu630Pro
ENST00000494123.6:c.5339T>C	ENSP00000419103.2:p.Leu1780Pro
ENST00000497488.2:c.4451T>C	ENSP00000418986.2:p.Leu1484Pro
ENST00000618469.2:c.5339T>C	ENSP00000478114.2:p.Leu1780Pro
ENST00000634433.2:c.5216T>C	ENSP00000489431.2:p.Leu1739Pro
ENST00000644379.2:c.5405T>C	ENSP00000496570.2:p.Leu1802Pro
ENST00000644555.2:c.1889T>C	ENSP00000494614.2:p.Leu630Pro
ENST00000652672.2:c.5198T>C	ENSP00000498906.2:p.Leu1733Pro
ENST00000484087.6:c.1901T>C	ENSP00000419481.2:p.Leu634Pro
ENST00000700081.1:n.1222T>C
ENST00000357654.9:c.5339T>C MANE Select	ENSP00000350283.3:p.Leu1780Pro
ENST00000471181.7:c.5402T>C	ENSP00000418960.2:p.Leu1801Pro
ENST00000644379.1:c.1726T>C
ENST00000352993.7:c.1913T>C	ENSP00000312236.5:p.Leu638Pro
ENST00000357654.7:c.5339T>C	ENSP00000350283.3:p.Leu1780Pro
ENST00000461221.5:c.*5122T>C	ENSP00000418548.1:n.*5122T>C
ENST00000468300.5:c.2021-1485T>C	ENSP00000417148.1:n.2021-1485T>C
ENST00000471181.6:c.5402T>C	ENSP00000418960.2:p.Leu1801Pro
ENST00000491747.6:c.2027T>C	ENSP00000420705.2:p.Leu676Pro
ENST00000493795.5:c.5198T>C	ENSP00000418775.1:p.Leu1733Pro
ENST00000586385.5:c.269T>C	ENSP00000465818.1:p.Leu90Pro
ENST00000591534.5:c.812T>C	ENSP00000467329.1:p.Leu271Pro
ENST00000591849.5:c.38T>C	ENSP00000465347.1:p.Leu13Pro
NM_007294.3:c.5339T>C , LRG_292t1:c.5339T>C	NP_009225.1:p.Leu1780Pro
NM_007297.3:c.5198T>C	NP_009228.2:p.Leu1733Pro
NM_007298.3:c.2027T>C	NP_009229.2:p.Leu676Pro
NM_007299.3:c.2021-1485T>C	NP_009230.2:n.2021-1485T>C
NM_007300.3:c.5402T>C	NP_009231.2:p.Leu1801Pro
NR_027676.1:n.5475T>C
NM_007294.4:c.5339T>C MANE Select	NP_009225.1:p.Leu1780Pro
NM_007297.4:c.5198T>C	NP_009228.2:p.Leu1733Pro
NM_007299.4:c.2021-1485T>C	NP_009230.2:n.2021-1485T>C
NM_007300.4:c.5402T>C	NP_009231.2:p.Leu1801Pro
NR_027676.2:n.5516T>C