Canonical Allele Identifier: CA10593115

Gene: BRCA1

Linked Data

• dbSNP Id: rs2154150529
• MyVariant Identifiers: chr17:g.41234475C>T (hg19) ; chr17:g.43082458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082458C>T , CM000679.2:g.43082458C>T	GRCh38
NC_000017.10:g.41234475C>T , CM000679.1:g.41234475C>T	GRCh37
NC_000017.9:g.38488001C>T	NCBI36
NG_005905.2:g.135526G>A , LRG_292:g.135526G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4303G>A	ENSP00000417241.2:p.Asp1435Asn
ENST00000470026.6:c.4303G>A	ENSP00000419274.2:p.Asp1435Asn
ENST00000473961.6:c.4177G>A	ENSP00000420201.2:p.Asp1393Asn
ENST00000476777.6:c.4297G>A	ENSP00000417554.2:p.Asp1433Asn
ENST00000477152.6:c.4225G>A	ENSP00000419988.2:p.Asp1409Asn
ENST00000478531.6:c.991G>A	ENSP00000420412.2:p.Asp331Asn
ENST00000489037.2:c.4225G>A	ENSP00000420781.2:p.Asp1409Asn
ENST00000493919.6:c.853G>A	ENSP00000418819.2:p.Asp285Asn
ENST00000494123.6:c.4303G>A	ENSP00000419103.2:p.Asp1435Asn
ENST00000497488.2:c.3415G>A	ENSP00000418986.2:p.Asp1139Asn
ENST00000618469.2:c.4303G>A	ENSP00000478114.2:p.Asp1435Asn
ENST00000634433.2:c.4180G>A	ENSP00000489431.2:p.Asp1394Asn
ENST00000644379.2:c.4303G>A	ENSP00000496570.2:p.Asp1435Asn
ENST00000644555.2:c.853G>A	ENSP00000494614.2:p.Asp285Asn
ENST00000652672.2:c.4162G>A	ENSP00000498906.2:p.Asp1388Asn
ENST00000484087.6:c.868G>A	ENSP00000419481.2:p.Asp290Asn
ENST00000700182.1:c.913G>A	ENSP00000514849.1:p.Asp305Asn
ENST00000357654.9:c.4303G>A MANE Select	ENSP00000350283.3:p.Asp1435Asn
ENST00000471181.7:c.4303G>A	ENSP00000418960.2:p.Asp1435Asn
ENST00000644379.1:c.624G>A
ENST00000352993.7:c.877G>A	ENSP00000312236.5:p.Asp293Asn
ENST00000357654.7:c.4303G>A	ENSP00000350283.3:p.Asp1435Asn
ENST00000461221.5:c.*4086G>A	ENSP00000418548.1:n.*4086G>A
ENST00000461574.1:c.597G>A
ENST00000468300.5:c.994G>A	ENSP00000417148.1:p.Asp332Asn
ENST00000471181.6:c.4303G>A	ENSP00000418960.2:p.Asp1435Asn
ENST00000478531.5:c.991G>A	ENSP00000420412.1:p.Asp331Asn
ENST00000484087.5:c.616G>A	ENSP00000419481.1:p.Asp206Asn
ENST00000487825.5:c.619G>A	ENSP00000418212.1:p.Asp207Asn
ENST00000491747.6:c.994G>A	ENSP00000420705.2:p.Asp332Asn
ENST00000493795.5:c.4162G>A	ENSP00000418775.1:p.Asp1388Asn
ENST00000493919.5:c.853G>A	ENSP00000418819.1:p.Asp285Asn
ENST00000586385.5:c.5-18507G>A	ENSP00000465818.1:n.5-18507G>A
ENST00000591534.5:c.-43-7937G>A	ENSP00000467329.1:n.-43-7937G>A
ENST00000591849.5:c.-98-32268G>A	ENSP00000465347.1:n.-98-32268G>A
ENST00000621897.1:n.197G>A
NM_007294.3:c.4303G>A , LRG_292t1:c.4303G>A	NP_009225.1:p.Asp1435Asn
NM_007297.3:c.4162G>A	NP_009228.2:p.Asp1388Asn
NM_007298.3:c.994G>A	NP_009229.2:p.Asp332Asn
NM_007299.3:c.994G>A	NP_009230.2:p.Asp332Asn
NM_007300.3:c.4303G>A	NP_009231.2:p.Asp1435Asn
NR_027676.1:n.4439G>A
NM_007294.4:c.4303G>A MANE Select	NP_009225.1:p.Asp1435Asn
NM_007297.4:c.4162G>A	NP_009228.2:p.Asp1388Asn
NM_007299.4:c.994G>A	NP_009230.2:p.Asp332Asn
NM_007300.4:c.4303G>A	NP_009231.2:p.Asp1435Asn
NR_027676.2:n.4480G>A