Canonical Allele Identifier: CA10592472

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226498A>C (hg19) ; chr17:g.43074481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074481A>C , CM000679.2:g.43074481A>C	GRCh38
NC_000017.10:g.41226498A>C , CM000679.1:g.41226498A>C	GRCh37
NC_000017.9:g.38480024A>C	NCBI36
NG_005905.2:g.143503T>G , LRG_292:g.143503T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4522T>G	ENSP00000417241.2:p.Tyr1508Asp
ENST00000470026.6:c.4525T>G	ENSP00000419274.2:p.Tyr1509Asp
ENST00000473961.6:c.4399T>G	ENSP00000420201.2:p.Tyr1467Asp
ENST00000476777.6:c.4519T>G	ENSP00000417554.2:p.Tyr1507Asp
ENST00000477152.6:c.4447T>G	ENSP00000419988.2:p.Tyr1483Asp
ENST00000478531.6:c.1213T>G	ENSP00000420412.2:p.Tyr405Asp
ENST00000489037.2:c.4447T>G	ENSP00000420781.2:p.Tyr1483Asp
ENST00000493919.6:c.1075T>G	ENSP00000418819.2:p.Tyr359Asp
ENST00000494123.6:c.4525T>G	ENSP00000419103.2:p.Tyr1509Asp
ENST00000497488.2:c.3637T>G	ENSP00000418986.2:p.Tyr1213Asp
ENST00000618469.2:c.4525T>G	ENSP00000478114.2:p.Tyr1509Asp
ENST00000634433.2:c.4402T>G	ENSP00000489431.2:p.Tyr1468Asp
ENST00000644379.2:c.4591T>G	ENSP00000496570.2:p.Tyr1531Asp
ENST00000644555.2:c.1075T>G	ENSP00000494614.2:p.Tyr359Asp
ENST00000652672.2:c.4384T>G	ENSP00000498906.2:p.Tyr1462Asp
ENST00000484087.6:c.1087T>G	ENSP00000419481.2:p.Tyr363Asp
ENST00000700182.1:c.1132T>G	ENSP00000514849.1:p.Tyr378Asp
ENST00000357654.9:c.4525T>G MANE Select	ENSP00000350283.3:p.Tyr1509Asp
ENST00000471181.7:c.4588T>G	ENSP00000418960.2:p.Tyr1530Asp
ENST00000644379.1:c.912T>G
ENST00000352993.7:c.1099T>G	ENSP00000312236.5:p.Tyr367Asp
ENST00000357654.7:c.4525T>G	ENSP00000350283.3:p.Tyr1509Asp
ENST00000461221.5:c.*4308T>G	ENSP00000418548.1:n.*4308T>G
ENST00000468300.5:c.1213T>G	ENSP00000417148.1:p.Tyr405Asp
ENST00000471181.6:c.4588T>G	ENSP00000418960.2:p.Tyr1530Asp
ENST00000478531.5:c.1213T>G	ENSP00000420412.1:p.Tyr405Asp
ENST00000484087.5:c.838T>G	ENSP00000419481.1:p.Tyr280Asp
ENST00000491747.6:c.1213T>G	ENSP00000420705.2:p.Tyr405Asp
ENST00000493795.5:c.4384T>G	ENSP00000418775.1:p.Tyr1462Asp
ENST00000493919.5:c.1075T>G	ENSP00000418819.1:p.Tyr359Asp
ENST00000586385.5:c.5-10530T>G	ENSP00000465818.1:n.5-10530T>G
ENST00000591534.5:c.-3T>G	ENSP00000467329.1:n.-3T>G
ENST00000591849.5:c.-98-24291T>G	ENSP00000465347.1:n.-98-24291T>G
NM_007294.3:c.4525T>G , LRG_292t1:c.4525T>G	NP_009225.1:p.Tyr1509Asp
NM_007297.3:c.4384T>G	NP_009228.2:p.Tyr1462Asp
NM_007298.3:c.1213T>G	NP_009229.2:p.Tyr405Asp
NM_007299.3:c.1213T>G	NP_009230.2:p.Tyr405Asp
NM_007300.3:c.4588T>G	NP_009231.2:p.Tyr1530Asp
NR_027676.1:n.4661T>G
NM_007294.4:c.4525T>G MANE Select	NP_009225.1:p.Tyr1509Asp
NM_007297.4:c.4384T>G	NP_009228.2:p.Tyr1462Asp
NM_007299.4:c.1213T>G	NP_009230.2:p.Tyr405Asp
NM_007300.4:c.4588T>G	NP_009231.2:p.Tyr1530Asp
NR_027676.2:n.4702T>G