Canonical Allele Identifier: CA10592408

Gene: BRCA1

Linked Data

• MyVariant Identifiers: chr17:g.41226468T>G (hg19) ; chr17:g.43074451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074451T>G , CM000679.2:g.43074451T>G	GRCh38
NC_000017.10:g.41226468T>G , CM000679.1:g.41226468T>G	GRCh37
NC_000017.9:g.38479994T>G	NCBI36
NG_005905.2:g.143533A>C , LRG_292:g.143533A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4552A>C	ENSP00000417241.2:p.Asn1518His
ENST00000470026.6:c.4555A>C	ENSP00000419274.2:p.Asn1519His
ENST00000473961.6:c.4429A>C	ENSP00000420201.2:p.Asn1477His
ENST00000476777.6:c.4549A>C	ENSP00000417554.2:p.Asn1517His
ENST00000477152.6:c.4477A>C	ENSP00000419988.2:p.Asn1493His
ENST00000478531.6:c.1243A>C	ENSP00000420412.2:p.Asn415His
ENST00000489037.2:c.4477A>C	ENSP00000420781.2:p.Asn1493His
ENST00000493919.6:c.1105A>C	ENSP00000418819.2:p.Asn369His
ENST00000494123.6:c.4555A>C	ENSP00000419103.2:p.Asn1519His
ENST00000497488.2:c.3667A>C	ENSP00000418986.2:p.Asn1223His
ENST00000618469.2:c.4555A>C	ENSP00000478114.2:p.Asn1519His
ENST00000634433.2:c.4432A>C	ENSP00000489431.2:p.Asn1478His
ENST00000644379.2:c.4621A>C	ENSP00000496570.2:p.Asn1541His
ENST00000644555.2:c.1105A>C	ENSP00000494614.2:p.Asn369His
ENST00000652672.2:c.4414A>C	ENSP00000498906.2:p.Asn1472His
ENST00000484087.6:c.1117A>C	ENSP00000419481.2:p.Asn373His
ENST00000700182.1:c.1162A>C	ENSP00000514849.1:p.Asn388His
ENST00000357654.9:c.4555A>C MANE Select	ENSP00000350283.3:p.Asn1519His
ENST00000471181.7:c.4618A>C	ENSP00000418960.2:p.Asn1540His
ENST00000644379.1:c.942A>C
ENST00000352993.7:c.1129A>C	ENSP00000312236.5:p.Asn377His
ENST00000357654.7:c.4555A>C	ENSP00000350283.3:p.Asn1519His
ENST00000461221.5:c.*4338A>C	ENSP00000418548.1:n.*4338A>C
ENST00000468300.5:c.1243A>C	ENSP00000417148.1:p.Asn415His
ENST00000471181.6:c.4618A>C	ENSP00000418960.2:p.Asn1540His
ENST00000478531.5:c.1243A>C	ENSP00000420412.1:p.Asn415His
ENST00000484087.5:c.868A>C	ENSP00000419481.1:p.Asn290His
ENST00000491747.6:c.1243A>C	ENSP00000420705.2:p.Asn415His
ENST00000493795.5:c.4414A>C	ENSP00000418775.1:p.Asn1472His
ENST00000493919.5:c.1105A>C	ENSP00000418819.1:p.Asn369His
ENST00000586385.5:c.5-10500A>C	ENSP00000465818.1:n.5-10500A>C
ENST00000591534.5:c.28A>C	ENSP00000467329.1:p.Asn10His
ENST00000591849.5:c.-98-24261A>C	ENSP00000465347.1:n.-98-24261A>C
NM_007294.3:c.4555A>C , LRG_292t1:c.4555A>C	NP_009225.1:p.Asn1519His
NM_007297.3:c.4414A>C	NP_009228.2:p.Asn1472His
NM_007298.3:c.1243A>C	NP_009229.2:p.Asn415His
NM_007299.3:c.1243A>C	NP_009230.2:p.Asn415His
NM_007300.3:c.4618A>C	NP_009231.2:p.Asn1540His
NR_027676.1:n.4691A>C
NM_007294.4:c.4555A>C MANE Select	NP_009225.1:p.Asn1519His
NM_007297.4:c.4414A>C	NP_009228.2:p.Asn1472His
NM_007299.4:c.1243A>C	NP_009230.2:p.Asn415His
NM_007300.4:c.4618A>C	NP_009231.2:p.Asn1540His
NR_027676.2:n.4732A>C