Canonical Allele Identifier: CA002733

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55153
• ClinVar RCV Id: RCV000577149 ; RCV000661301
• dbSNP Id: rs397509157
• MyVariant Identifiers: chr17:g.41234525A>C (hg19) ; chr17:g.43082508A>C (hg38)
• PubMed: PMID:21918854

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082508A>C , CM000679.2:g.43082508A>C	GRCh38
NC_000017.10:g.41234525A>C , CM000679.1:g.41234525A>C	GRCh37
NC_000017.9:g.38488051A>C	NCBI36
NG_005905.2:g.135476T>G , LRG_292:g.135476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4253T>G	ENSP00000417241.2:p.Leu1418Ter
ENST00000470026.6:c.4253T>G	ENSP00000419274.2:p.Leu1418Ter
ENST00000473961.6:c.4127T>G	ENSP00000420201.2:p.Leu1376Ter
ENST00000476777.6:c.4247T>G	ENSP00000417554.2:p.Leu1416Ter
ENST00000477152.6:c.4175T>G	ENSP00000419988.2:p.Leu1392Ter
ENST00000478531.6:c.941T>G	ENSP00000420412.2:p.Leu314Ter
ENST00000489037.2:c.4175T>G	ENSP00000420781.2:p.Leu1392Ter
ENST00000493919.6:c.803T>G	ENSP00000418819.2:p.Leu268Ter
ENST00000494123.6:c.4253T>G	ENSP00000419103.2:p.Leu1418Ter
ENST00000497488.2:c.3365T>G	ENSP00000418986.2:p.Leu1122Ter
ENST00000618469.2:c.4253T>G	ENSP00000478114.2:p.Leu1418Ter
ENST00000634433.2:c.4130T>G	ENSP00000489431.2:p.Leu1377Ter
ENST00000644379.2:c.4253T>G	ENSP00000496570.2:p.Leu1418Ter
ENST00000644555.2:c.803T>G	ENSP00000494614.2:p.Leu268Ter
ENST00000652672.2:c.4112T>G	ENSP00000498906.2:p.Leu1371Ter
ENST00000484087.6:c.818T>G	ENSP00000419481.2:p.Leu273Ter
ENST00000700182.1:c.863T>G	ENSP00000514849.1:p.Leu288Ter
ENST00000357654.9:c.4253T>G MANE Select	ENSP00000350283.3:p.Leu1418Ter
ENST00000471181.7:c.4253T>G	ENSP00000418960.2:p.Leu1418Ter
ENST00000644379.1:c.574T>G
ENST00000352993.7:c.827T>G	ENSP00000312236.5:p.Leu276Ter
ENST00000357654.7:c.4253T>G	ENSP00000350283.3:p.Leu1418Ter
ENST00000461221.5:c.*4036T>G	ENSP00000418548.1:n.*4036T>G
ENST00000461574.1:c.547T>G
ENST00000468300.5:c.944T>G	ENSP00000417148.1:p.Leu315Ter
ENST00000471181.6:c.4253T>G	ENSP00000418960.2:p.Leu1418Ter
ENST00000478531.5:c.941T>G	ENSP00000420412.1:p.Leu314Ter
ENST00000484087.5:c.566T>G	ENSP00000419481.1:p.Leu189Ter
ENST00000487825.5:c.569T>G	ENSP00000418212.1:p.Leu190Ter
ENST00000491747.6:c.944T>G	ENSP00000420705.2:p.Leu315Ter
ENST00000493795.5:c.4112T>G	ENSP00000418775.1:p.Leu1371Ter
ENST00000493919.5:c.803T>G	ENSP00000418819.1:p.Leu268Ter
ENST00000586385.5:c.5-18557T>G	ENSP00000465818.1:n.5-18557T>G
ENST00000591534.5:c.-43-7987T>G	ENSP00000467329.1:n.-43-7987T>G
ENST00000591849.5:c.-98-32318T>G	ENSP00000465347.1:n.-98-32318T>G
ENST00000621897.1:n.147T>G
NM_007294.3:c.4253T>G , LRG_292t1:c.4253T>G	NP_009225.1:p.Leu1418Ter
NM_007297.3:c.4112T>G	NP_009228.2:p.Leu1371Ter
NM_007298.3:c.944T>G	NP_009229.2:p.Leu315Ter
NM_007299.3:c.944T>G	NP_009230.2:p.Leu315Ter
NM_007300.3:c.4253T>G	NP_009231.2:p.Leu1418Ter
NR_027676.1:n.4389T>G
NM_007294.4:c.4253T>G MANE Select	NP_009225.1:p.Leu1418Ter
NM_007297.4:c.4112T>G	NP_009228.2:p.Leu1371Ter
NM_007299.4:c.944T>G	NP_009230.2:p.Leu315Ter
NM_007300.4:c.4253T>G	NP_009231.2:p.Leu1418Ter
NR_027676.2:n.4430T>G