Canonical Allele Identifier: CA10592337

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 825018
• ClinVar RCV Id: RCV001022738
• dbSNP Id: rs764016240
• MyVariant Identifiers: chr17:g.41226435T>G (hg19) ; chr17:g.43074418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074418T>G , CM000679.2:g.43074418T>G	GRCh38
NC_000017.10:g.41226435T>G , CM000679.1:g.41226435T>G	GRCh37
NC_000017.9:g.38479961T>G	NCBI36
NG_005905.2:g.143566A>C , LRG_292:g.143566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4585A>C	ENSP00000417241.2:p.Lys1529Gln
ENST00000470026.6:c.4588A>C	ENSP00000419274.2:p.Lys1530Gln
ENST00000473961.6:c.4462A>C	ENSP00000420201.2:p.Lys1488Gln
ENST00000476777.6:c.4582A>C	ENSP00000417554.2:p.Lys1528Gln
ENST00000477152.6:c.4510A>C	ENSP00000419988.2:p.Lys1504Gln
ENST00000478531.6:c.1276A>C	ENSP00000420412.2:p.Lys426Gln
ENST00000489037.2:c.4510A>C	ENSP00000420781.2:p.Lys1504Gln
ENST00000493919.6:c.1138A>C	ENSP00000418819.2:p.Lys380Gln
ENST00000494123.6:c.4588A>C	ENSP00000419103.2:p.Lys1530Gln
ENST00000497488.2:c.3700A>C	ENSP00000418986.2:p.Lys1234Gln
ENST00000618469.2:c.4588A>C	ENSP00000478114.2:p.Lys1530Gln
ENST00000634433.2:c.4465A>C	ENSP00000489431.2:p.Lys1489Gln
ENST00000644379.2:c.4654A>C	ENSP00000496570.2:p.Lys1552Gln
ENST00000644555.2:c.1138A>C	ENSP00000494614.2:p.Lys380Gln
ENST00000652672.2:c.4447A>C	ENSP00000498906.2:p.Lys1483Gln
ENST00000484087.6:c.1150A>C	ENSP00000419481.2:p.Lys384Gln
ENST00000700182.1:c.1195A>C	ENSP00000514849.1:p.Lys399Gln
ENST00000357654.9:c.4588A>C MANE Select	ENSP00000350283.3:p.Lys1530Gln
ENST00000471181.7:c.4651A>C	ENSP00000418960.2:p.Lys1551Gln
ENST00000644379.1:c.975A>C
ENST00000352993.7:c.1162A>C	ENSP00000312236.5:p.Lys388Gln
ENST00000357654.7:c.4588A>C	ENSP00000350283.3:p.Lys1530Gln
ENST00000461221.5:c.*4371A>C	ENSP00000418548.1:n.*4371A>C
ENST00000468300.5:c.1276A>C	ENSP00000417148.1:p.Lys426Gln
ENST00000471181.6:c.4651A>C	ENSP00000418960.2:p.Lys1551Gln
ENST00000478531.5:c.1276A>C	ENSP00000420412.1:p.Lys426Gln
ENST00000484087.5:c.901A>C	ENSP00000419481.1:p.Lys301Gln
ENST00000491747.6:c.1276A>C	ENSP00000420705.2:p.Lys426Gln
ENST00000493795.5:c.4447A>C	ENSP00000418775.1:p.Lys1483Gln
ENST00000493919.5:c.1138A>C	ENSP00000418819.1:p.Lys380Gln
ENST00000586385.5:c.5-10467A>C	ENSP00000465818.1:n.5-10467A>C
ENST00000591534.5:c.61A>C	ENSP00000467329.1:p.Lys21Gln
ENST00000591849.5:c.-98-24228A>C	ENSP00000465347.1:n.-98-24228A>C
NM_007294.3:c.4588A>C , LRG_292t1:c.4588A>C	NP_009225.1:p.Lys1530Gln
NM_007297.3:c.4447A>C	NP_009228.2:p.Lys1483Gln
NM_007298.3:c.1276A>C	NP_009229.2:p.Lys426Gln
NM_007299.3:c.1276A>C	NP_009230.2:p.Lys426Gln
NM_007300.3:c.4651A>C	NP_009231.2:p.Lys1551Gln
NR_027676.1:n.4724A>C
NM_007294.4:c.4588A>C MANE Select	NP_009225.1:p.Lys1530Gln
NM_007297.4:c.4447A>C	NP_009228.2:p.Lys1483Gln
NM_007299.4:c.1276A>C	NP_009230.2:p.Lys426Gln
NM_007300.4:c.4651A>C	NP_009231.2:p.Lys1551Gln
NR_027676.2:n.4765A>C