Canonical Allele Identifier: CA10591627

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070966T>C , CM000679.2:g.43070966T>C	GRCh38
NC_000017.10:g.41222983T>C , CM000679.1:g.41222983T>C	GRCh37
NC_000017.9:g.38476509T>C	NCBI36
NG_005905.2:g.147018A>G , LRG_292:g.147018A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4948A>G MANE Select	NP_009225.1:p.Met1650Val
ENST00000357654.9:c.4948A>G MANE Select	ENSP00000350283.3:p.Met1650Val
NM_007294.3:c.4948A>G , LRG_292t1:c.4948A>G	NP_009225.1:p.Met1650Val
NM_007297.3:c.4807A>G	NP_009228.2:p.Met1603Val
NM_007297.4:c.4807A>G	NP_009228.2:p.Met1603Val
NM_007298.3:c.1636A>G	NP_009229.2:p.Met546Val
NM_007299.3:c.1636A>G	NP_009230.2:p.Met546Val
NM_007299.4:c.1636A>G	NP_009230.2:p.Met546Val
NM_007300.3:c.5011A>G	NP_009231.2:p.Met1671Val
NM_007300.4:c.5011A>G	NP_009231.2:p.Met1671Val
NR_027676.1:n.5084A>G
NR_027676.2:n.5125A>G
ENST00000352993.7:c.1522A>G	ENSP00000312236.5:p.Met508Val
ENST00000357654.7:c.4948A>G	ENSP00000350283.3:p.Met1650Val
ENST00000461221.5:c.*4731A>G	ENSP00000418548.1:n.*4731A>G
ENST00000461574.2:c.4945A>G	ENSP00000417241.2:p.Met1649Val
ENST00000468300.5:c.1636A>G	ENSP00000417148.1:p.Met546Val
ENST00000470026.6:c.4948A>G	ENSP00000419274.2:p.Met1650Val
ENST00000471181.6:c.5011A>G	ENSP00000418960.2:p.Met1671Val
ENST00000471181.7:c.5011A>G	ENSP00000418960.2:p.Met1671Val
ENST00000472490.1:n.101A>G
ENST00000473961.6:c.4822A>G	ENSP00000420201.2:p.Met1608Val
ENST00000476777.6:c.4942A>G	ENSP00000417554.2:p.Met1648Val
ENST00000477152.6:c.4870A>G	ENSP00000419988.2:p.Met1624Val
ENST00000478531.5:c.1636A>G	ENSP00000420412.1:p.Met546Val
ENST00000478531.6:c.1636A>G	ENSP00000420412.2:p.Met546Val
ENST00000484087.5:c.1261A>G	ENSP00000419481.1:p.Met421Val
ENST00000484087.6:c.1510A>G	ENSP00000419481.2:p.Met504Val
ENST00000489037.2:c.4870A>G	ENSP00000420781.2:p.Met1624Val
ENST00000491747.6:c.1636A>G	ENSP00000420705.2:p.Met546Val
ENST00000493795.5:c.4807A>G	ENSP00000418775.1:p.Met1603Val
ENST00000493919.5:c.1498A>G	ENSP00000418819.1:p.Met500Val
ENST00000493919.6:c.1498A>G	ENSP00000418819.2:p.Met500Val
ENST00000494123.6:c.4948A>G	ENSP00000419103.2:p.Met1650Val
ENST00000497488.2:c.4060A>G	ENSP00000418986.2:p.Met1354Val
ENST00000586385.5:c.5-7015A>G	ENSP00000465818.1:n.5-7015A>G
ENST00000591534.5:c.421A>G	ENSP00000467329.1:p.Met141Val
ENST00000591849.5:c.-98-20776A>G	ENSP00000465347.1:n.-98-20776A>G
ENST00000618469.2:c.4948A>G	ENSP00000478114.2:p.Met1650Val
ENST00000634433.2:c.4825A>G	ENSP00000489431.2:p.Met1609Val
ENST00000644379.1:c.1335A>G
ENST00000644379.2:c.5014A>G	ENSP00000496570.2:p.Met1672Val
ENST00000644555.2:c.1498A>G	ENSP00000494614.2:p.Met500Val
ENST00000652672.2:c.4807A>G	ENSP00000498906.2:p.Met1603Val
ENST00000700182.1:c.1555A>G	ENSP00000514849.1:p.Met519Val