Canonical Allele Identifier: CA055189

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045791T>C , CM000679.2:g.43045791T>C	GRCh38
NC_000017.10:g.41197808T>C , CM000679.1:g.41197808T>C	GRCh37
NC_000017.9:g.38451334T>C	NCBI36
NG_005905.2:g.172193A>G , LRG_292:g.172193A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5479A>G MANE Select	NP_009225.1:p.Met1827Val
ENST00000357654.9:c.5479A>G MANE Select	ENSP00000350283.3:p.Met1827Val
NM_007294.3:c.5479A>G , LRG_292t1:c.5479A>G	NP_009225.1:p.Met1827Val
NM_007297.3:c.5338A>G	NP_009228.2:p.Met1780Val
NM_007297.4:c.5338A>G	NP_009228.2:p.Met1780Val
NM_007298.3:c.2167A>G	NP_009229.2:p.Met723Val
NM_007299.3:c.2093A>G	NP_009230.2:p.Asp698Gly
NM_007299.4:c.2093A>G	NP_009230.2:p.Asp698Gly
NM_007300.3:c.5542A>G	NP_009231.2:p.Met1848Val
NM_007300.4:c.5542A>G	NP_009231.2:p.Met1848Val
NR_027676.1:n.5615A>G
NR_027676.2:n.5656A>G
ENST00000352993.7:c.2053A>G	ENSP00000312236.5:p.Met685Val
ENST00000357654.7:c.5479A>G	ENSP00000350283.3:p.Met1827Val
ENST00000461221.5:c.*5262A>G	ENSP00000418548.1:n.*5262A>G
ENST00000461574.2:c.5476A>G	ENSP00000417241.2:p.Met1826Val
ENST00000468300.5:c.2093A>G	ENSP00000417148.1:p.Asp698Gly
ENST00000470026.6:c.5479A>G	ENSP00000419274.2:p.Met1827Val
ENST00000471181.6:c.5542A>G	ENSP00000418960.2:p.Met1848Val
ENST00000471181.7:c.5542A>G	ENSP00000418960.2:p.Met1848Val
ENST00000473961.6:c.5353A>G	ENSP00000420201.2:p.Met1785Val
ENST00000476777.6:c.5473A>G	ENSP00000417554.2:p.Met1825Val
ENST00000477152.6:c.5401A>G	ENSP00000419988.2:p.Met1801Val
ENST00000478531.6:c.2167A>G	ENSP00000420412.2:p.Met723Val
ENST00000484087.6:c.2041A>G	ENSP00000419481.2:p.Met681Val
ENST00000489037.2:c.5401A>G	ENSP00000420781.2:p.Met1801Val
ENST00000491747.6:c.2167A>G	ENSP00000420705.2:p.Met723Val
ENST00000493795.5:c.5338A>G	ENSP00000418775.1:p.Met1780Val
ENST00000493919.6:c.2029A>G	ENSP00000418819.2:p.Met677Val
ENST00000494123.6:c.5479A>G	ENSP00000419103.2:p.Met1827Val
ENST00000497488.2:c.4591A>G	ENSP00000418986.2:p.Met1531Val
ENST00000586385.5:c.409A>G	ENSP00000465818.1:p.Met137Val
ENST00000591534.5:c.952A>G	ENSP00000467329.1:p.Met318Val
ENST00000591849.5:c.178A>G	ENSP00000465347.1:p.Met60Val
ENST00000618469.2:c.5479A>G	ENSP00000478114.2:p.Met1827Val
ENST00000634433.2:c.5356A>G	ENSP00000489431.2:p.Met1786Val
ENST00000644379.1:c.1866A>G
ENST00000644379.2:c.5545A>G	ENSP00000496570.2:p.Met1849Val
ENST00000644555.2:c.2029A>G	ENSP00000494614.2:p.Met677Val
ENST00000652672.2:c.5338A>G	ENSP00000498906.2:p.Met1780Val
ENST00000700081.1:n.1362A>G
ENST00000700082.1:n.843A>G