Canonical Allele Identifier: CA10592178

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226356T>G (hg19) ; chr17:g.43074339T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074339T>G , CM000679.2:g.43074339T>G	GRCh38
NC_000017.10:g.41226356T>G , CM000679.1:g.41226356T>G	GRCh37
NC_000017.9:g.38479882T>G	NCBI36
NG_005905.2:g.143645A>C , LRG_292:g.143645A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4664A>C	ENSP00000417241.2:p.Gln1555Pro
ENST00000470026.6:c.4667A>C	ENSP00000419274.2:p.Gln1556Pro
ENST00000473961.6:c.4541A>C	ENSP00000420201.2:p.Gln1514Pro
ENST00000476777.6:c.4661A>C	ENSP00000417554.2:p.Gln1554Pro
ENST00000477152.6:c.4589A>C	ENSP00000419988.2:p.Gln1530Pro
ENST00000478531.6:c.1355A>C	ENSP00000420412.2:p.Gln452Pro
ENST00000489037.2:c.4589A>C	ENSP00000420781.2:p.Gln1530Pro
ENST00000493919.6:c.1217A>C	ENSP00000418819.2:p.Gln406Pro
ENST00000494123.6:c.4667A>C	ENSP00000419103.2:p.Gln1556Pro
ENST00000497488.2:c.3779A>C	ENSP00000418986.2:p.Gln1260Pro
ENST00000618469.2:c.4667A>C	ENSP00000478114.2:p.Gln1556Pro
ENST00000634433.2:c.4544A>C	ENSP00000489431.2:p.Gln1515Pro
ENST00000644379.2:c.4733A>C	ENSP00000496570.2:p.Gln1578Pro
ENST00000644555.2:c.1217A>C	ENSP00000494614.2:p.Gln406Pro
ENST00000652672.2:c.4526A>C	ENSP00000498906.2:p.Gln1509Pro
ENST00000484087.6:c.1229A>C	ENSP00000419481.2:p.Gln410Pro
ENST00000700182.1:c.1274A>C	ENSP00000514849.1:p.Gln425Pro
ENST00000357654.9:c.4667A>C MANE Select	ENSP00000350283.3:p.Gln1556Pro
ENST00000471181.7:c.4730A>C	ENSP00000418960.2:p.Gln1577Pro
ENST00000644379.1:c.1054A>C
ENST00000352993.7:c.1241A>C	ENSP00000312236.5:p.Gln414Pro
ENST00000357654.7:c.4667A>C	ENSP00000350283.3:p.Gln1556Pro
ENST00000461221.5:c.*4450A>C	ENSP00000418548.1:n.*4450A>C
ENST00000468300.5:c.1355A>C	ENSP00000417148.1:p.Gln452Pro
ENST00000471181.6:c.4730A>C	ENSP00000418960.2:p.Gln1577Pro
ENST00000478531.5:c.1355A>C	ENSP00000420412.1:p.Gln452Pro
ENST00000484087.5:c.980A>C	ENSP00000419481.1:p.Gln327Pro
ENST00000491747.6:c.1355A>C	ENSP00000420705.2:p.Gln452Pro
ENST00000493795.5:c.4526A>C	ENSP00000418775.1:p.Gln1509Pro
ENST00000493919.5:c.1217A>C	ENSP00000418819.1:p.Gln406Pro
ENST00000586385.5:c.5-10388A>C	ENSP00000465818.1:n.5-10388A>C
ENST00000591534.5:c.140A>C	ENSP00000467329.1:p.Gln47Pro
ENST00000591849.5:c.-98-24149A>C	ENSP00000465347.1:n.-98-24149A>C
NM_007294.3:c.4667A>C , LRG_292t1:c.4667A>C	NP_009225.1:p.Gln1556Pro
NM_007297.3:c.4526A>C	NP_009228.2:p.Gln1509Pro
NM_007298.3:c.1355A>C	NP_009229.2:p.Gln452Pro
NM_007299.3:c.1355A>C	NP_009230.2:p.Gln452Pro
NM_007300.3:c.4730A>C	NP_009231.2:p.Gln1577Pro
NR_027676.1:n.4803A>C
NM_007294.4:c.4667A>C MANE Select	NP_009225.1:p.Gln1556Pro
NM_007297.4:c.4526A>C	NP_009228.2:p.Gln1509Pro
NM_007299.4:c.1355A>C	NP_009230.2:p.Gln452Pro
NM_007300.4:c.4730A>C	NP_009231.2:p.Gln1577Pro
NR_027676.2:n.4844A>C