Canonical Allele Identifier: CA10592639

Gene: BRCA1

Linked Data

• dbSNP Id: rs2052724227
• MyVariant Identifiers: chr17:g.41228541C>T (hg19) ; chr17:g.43076524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076524C>T , CM000679.2:g.43076524C>T	GRCh38
NC_000017.10:g.41228541C>T , CM000679.1:g.41228541C>T	GRCh37
NC_000017.9:g.38482067C>T	NCBI36
NG_005905.2:g.141460G>A , LRG_292:g.141460G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4445G>A	ENSP00000417241.2:p.Ser1482Asn
ENST00000470026.6:c.4448G>A	ENSP00000419274.2:p.Ser1483Asn
ENST00000473961.6:c.4322G>A	ENSP00000420201.2:p.Ser1441Asn
ENST00000476777.6:c.4442G>A	ENSP00000417554.2:p.Ser1481Asn
ENST00000477152.6:c.4370G>A	ENSP00000419988.2:p.Ser1457Asn
ENST00000478531.6:c.1136G>A	ENSP00000420412.2:p.Ser379Asn
ENST00000489037.2:c.4370G>A	ENSP00000420781.2:p.Ser1457Asn
ENST00000493919.6:c.998G>A	ENSP00000418819.2:p.Ser333Asn
ENST00000494123.6:c.4448G>A	ENSP00000419103.2:p.Ser1483Asn
ENST00000497488.2:c.3560G>A	ENSP00000418986.2:p.Ser1187Asn
ENST00000618469.2:c.4448G>A	ENSP00000478114.2:p.Ser1483Asn
ENST00000634433.2:c.4325G>A	ENSP00000489431.2:p.Ser1442Asn
ENST00000644379.2:c.4514G>A	ENSP00000496570.2:p.Ser1505Asn
ENST00000644555.2:c.998G>A	ENSP00000494614.2:p.Ser333Asn
ENST00000652672.2:c.4307G>A	ENSP00000498906.2:p.Ser1436Asn
ENST00000484087.6:c.1010G>A	ENSP00000419481.2:p.Ser337Asn
ENST00000700182.1:c.1055G>A	ENSP00000514849.1:p.Ser352Asn
ENST00000357654.9:c.4448G>A MANE Select	ENSP00000350283.3:p.Ser1483Asn
ENST00000471181.7:c.4511G>A	ENSP00000418960.2:p.Ser1504Asn
ENST00000644379.1:c.835G>A
ENST00000352993.7:c.1022G>A	ENSP00000312236.5:p.Ser341Asn
ENST00000357654.7:c.4448G>A	ENSP00000350283.3:p.Ser1483Asn
ENST00000461221.5:c.*4231G>A	ENSP00000418548.1:n.*4231G>A
ENST00000468300.5:c.1136G>A	ENSP00000417148.1:p.Ser379Asn
ENST00000471181.6:c.4511G>A	ENSP00000418960.2:p.Ser1504Asn
ENST00000478531.5:c.1136G>A	ENSP00000420412.1:p.Ser379Asn
ENST00000484087.5:c.761G>A	ENSP00000419481.1:p.Ser254Asn
ENST00000487825.5:c.764G>A	ENSP00000418212.1:p.Ser255Asn
ENST00000491747.6:c.1136G>A	ENSP00000420705.2:p.Ser379Asn
ENST00000493795.5:c.4307G>A	ENSP00000418775.1:p.Ser1436Asn
ENST00000493919.5:c.998G>A	ENSP00000418819.1:p.Ser333Asn
ENST00000586385.5:c.5-12573G>A	ENSP00000465818.1:n.5-12573G>A
ENST00000591534.5:c.-43-2003G>A	ENSP00000467329.1:n.-43-2003G>A
ENST00000591849.5:c.-98-26334G>A	ENSP00000465347.1:n.-98-26334G>A
ENST00000621897.1:n.339G>A
NM_007294.3:c.4448G>A , LRG_292t1:c.4448G>A	NP_009225.1:p.Ser1483Asn
NM_007297.3:c.4307G>A	NP_009228.2:p.Ser1436Asn
NM_007298.3:c.1136G>A	NP_009229.2:p.Ser379Asn
NM_007299.3:c.1136G>A	NP_009230.2:p.Ser379Asn
NM_007300.3:c.4511G>A	NP_009231.2:p.Ser1504Asn
NR_027676.1:n.4584G>A
NM_007294.4:c.4448G>A MANE Select	NP_009225.1:p.Ser1483Asn
NM_007297.4:c.4307G>A	NP_009228.2:p.Ser1436Asn
NM_007299.4:c.1136G>A	NP_009230.2:p.Ser379Asn
NM_007300.4:c.4511G>A	NP_009231.2:p.Ser1504Asn
NR_027676.2:n.4625G>A