Canonical Allele Identifier: CA002759

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182080
• ClinVar RCV Id: RCV000159851
• dbSNP Id: rs730881445
• MyVariant Identifiers: chr17:g.41234473G>C (hg19) ; chr17:g.43082456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082456G>C , CM000679.2:g.43082456G>C	GRCh38
NC_000017.10:g.41234473G>C , CM000679.1:g.41234473G>C	GRCh37
NC_000017.9:g.38487999G>C	NCBI36
NG_005905.2:g.135528C>G , LRG_292:g.135528C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4305C>G	ENSP00000417241.2:p.Asp1435Glu
ENST00000470026.6:c.4305C>G	ENSP00000419274.2:p.Asp1435Glu
ENST00000473961.6:c.4179C>G	ENSP00000420201.2:p.Asp1393Glu
ENST00000476777.6:c.4299C>G	ENSP00000417554.2:p.Asp1433Glu
ENST00000477152.6:c.4227C>G	ENSP00000419988.2:p.Asp1409Glu
ENST00000478531.6:c.993C>G	ENSP00000420412.2:p.Asp331Glu
ENST00000489037.2:c.4227C>G	ENSP00000420781.2:p.Asp1409Glu
ENST00000493919.6:c.855C>G	ENSP00000418819.2:p.Asp285Glu
ENST00000494123.6:c.4305C>G	ENSP00000419103.2:p.Asp1435Glu
ENST00000497488.2:c.3417C>G	ENSP00000418986.2:p.Asp1139Glu
ENST00000618469.2:c.4305C>G	ENSP00000478114.2:p.Asp1435Glu
ENST00000634433.2:c.4182C>G	ENSP00000489431.2:p.Asp1394Glu
ENST00000644379.2:c.4305C>G	ENSP00000496570.2:p.Asp1435Glu
ENST00000644555.2:c.855C>G	ENSP00000494614.2:p.Asp285Glu
ENST00000652672.2:c.4164C>G	ENSP00000498906.2:p.Asp1388Glu
ENST00000484087.6:c.870C>G	ENSP00000419481.2:p.Asp290Glu
ENST00000700182.1:c.915C>G	ENSP00000514849.1:p.Asp305Glu
ENST00000357654.9:c.4305C>G MANE Select	ENSP00000350283.3:p.Asp1435Glu
ENST00000471181.7:c.4305C>G	ENSP00000418960.2:p.Asp1435Glu
ENST00000644379.1:c.626C>G
ENST00000352993.7:c.879C>G	ENSP00000312236.5:p.Asp293Glu
ENST00000357654.7:c.4305C>G	ENSP00000350283.3:p.Asp1435Glu
ENST00000461221.5:c.*4088C>G	ENSP00000418548.1:n.*4088C>G
ENST00000461574.1:c.599C>G
ENST00000468300.5:c.996C>G	ENSP00000417148.1:p.Asp332Glu
ENST00000471181.6:c.4305C>G	ENSP00000418960.2:p.Asp1435Glu
ENST00000478531.5:c.993C>G	ENSP00000420412.1:p.Asp331Glu
ENST00000484087.5:c.618C>G	ENSP00000419481.1:p.Asp206Glu
ENST00000487825.5:c.621C>G	ENSP00000418212.1:p.Asp207Glu
ENST00000491747.6:c.996C>G	ENSP00000420705.2:p.Asp332Glu
ENST00000493795.5:c.4164C>G	ENSP00000418775.1:p.Asp1388Glu
ENST00000493919.5:c.855C>G	ENSP00000418819.1:p.Asp285Glu
ENST00000586385.5:c.5-18505C>G	ENSP00000465818.1:n.5-18505C>G
ENST00000591534.5:c.-43-7935C>G	ENSP00000467329.1:n.-43-7935C>G
ENST00000591849.5:c.-98-32266C>G	ENSP00000465347.1:n.-98-32266C>G
ENST00000621897.1:n.199C>G
NM_007294.3:c.4305C>G , LRG_292t1:c.4305C>G	NP_009225.1:p.Asp1435Glu
NM_007297.3:c.4164C>G	NP_009228.2:p.Asp1388Glu
NM_007298.3:c.996C>G	NP_009229.2:p.Asp332Glu
NM_007299.3:c.996C>G	NP_009230.2:p.Asp332Glu
NM_007300.3:c.4305C>G	NP_009231.2:p.Asp1435Glu
NR_027676.1:n.4441C>G
NM_007294.4:c.4305C>G MANE Select	NP_009225.1:p.Asp1435Glu
NM_007297.4:c.4164C>G	NP_009228.2:p.Asp1388Glu
NM_007299.4:c.996C>G	NP_009230.2:p.Asp332Glu
NM_007300.4:c.4305C>G	NP_009231.2:p.Asp1435Glu
NR_027676.2:n.4482C>G