Canonical Allele Identifier: CA10592466

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074478T>C , CM000679.2:g.43074478T>C	GRCh38
NC_000017.10:g.41226495T>C , CM000679.1:g.41226495T>C	GRCh37
NC_000017.9:g.38480021T>C	NCBI36
NG_005905.2:g.143506A>G , LRG_292:g.143506A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4528A>G MANE Select	NP_009225.1:p.Met1510Val
ENST00000357654.9:c.4528A>G MANE Select	ENSP00000350283.3:p.Met1510Val
NM_007294.3:c.4528A>G , LRG_292t1:c.4528A>G	NP_009225.1:p.Met1510Val
NM_007297.3:c.4387A>G	NP_009228.2:p.Met1463Val
NM_007297.4:c.4387A>G	NP_009228.2:p.Met1463Val
NM_007298.3:c.1216A>G	NP_009229.2:p.Met406Val
NM_007299.3:c.1216A>G	NP_009230.2:p.Met406Val
NM_007299.4:c.1216A>G	NP_009230.2:p.Met406Val
NM_007300.3:c.4591A>G	NP_009231.2:p.Met1531Val
NM_007300.4:c.4591A>G	NP_009231.2:p.Met1531Val
NR_027676.1:n.4664A>G
NR_027676.2:n.4705A>G
ENST00000352993.7:c.1102A>G	ENSP00000312236.5:p.Met368Val
ENST00000357654.7:c.4528A>G	ENSP00000350283.3:p.Met1510Val
ENST00000461221.5:c.*4311A>G	ENSP00000418548.1:n.*4311A>G
ENST00000461574.2:c.4525A>G	ENSP00000417241.2:p.Met1509Val
ENST00000468300.5:c.1216A>G	ENSP00000417148.1:p.Met406Val
ENST00000470026.6:c.4528A>G	ENSP00000419274.2:p.Met1510Val
ENST00000471181.6:c.4591A>G	ENSP00000418960.2:p.Met1531Val
ENST00000471181.7:c.4591A>G	ENSP00000418960.2:p.Met1531Val
ENST00000473961.6:c.4402A>G	ENSP00000420201.2:p.Met1468Val
ENST00000476777.6:c.4522A>G	ENSP00000417554.2:p.Met1508Val
ENST00000477152.6:c.4450A>G	ENSP00000419988.2:p.Met1484Val
ENST00000478531.5:c.1216A>G	ENSP00000420412.1:p.Met406Val
ENST00000478531.6:c.1216A>G	ENSP00000420412.2:p.Met406Val
ENST00000484087.5:c.841A>G	ENSP00000419481.1:p.Met281Val
ENST00000484087.6:c.1090A>G	ENSP00000419481.2:p.Met364Val
ENST00000489037.2:c.4450A>G	ENSP00000420781.2:p.Met1484Val
ENST00000491747.6:c.1216A>G	ENSP00000420705.2:p.Met406Val
ENST00000493795.5:c.4387A>G	ENSP00000418775.1:p.Met1463Val
ENST00000493919.5:c.1078A>G	ENSP00000418819.1:p.Met360Val
ENST00000493919.6:c.1078A>G	ENSP00000418819.2:p.Met360Val
ENST00000494123.6:c.4528A>G	ENSP00000419103.2:p.Met1510Val
ENST00000497488.2:c.3640A>G	ENSP00000418986.2:p.Met1214Val
ENST00000586385.5:c.5-10527A>G	ENSP00000465818.1:n.5-10527A>G
ENST00000591534.5:c.1A>G	ENSP00000467329.1:p.Met1Val
ENST00000591849.5:c.-98-24288A>G	ENSP00000465347.1:n.-98-24288A>G
ENST00000618469.2:c.4528A>G	ENSP00000478114.2:p.Met1510Val
ENST00000634433.2:c.4405A>G	ENSP00000489431.2:p.Met1469Val
ENST00000644379.1:c.915A>G
ENST00000644379.2:c.4594A>G	ENSP00000496570.2:p.Met1532Val
ENST00000644555.2:c.1078A>G	ENSP00000494614.2:p.Met360Val
ENST00000652672.2:c.4387A>G	ENSP00000498906.2:p.Met1463Val
ENST00000700182.1:c.1135A>G	ENSP00000514849.1:p.Met379Val