Canonical Allele Identifier: CA500146803

Gene: BRCA1

Linked Data

• COSMIC: COSM4066743 ; COSM4066744
• MyVariant Identifiers: chr17:g.41228549A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076532A>G , CM000679.2:g.43076532A>G	GRCh38
NC_000017.10:g.41228549A>G , CM000679.1:g.41228549A>G	GRCh37
NC_000017.9:g.38482075A>G	NCBI36
NG_005905.2:g.141452T>C , LRG_292:g.141452T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4437T>C	ENSP00000417241.2:p.Ser1479=
ENST00000470026.6:c.4440T>C	ENSP00000419274.2:p.Ser1480=
ENST00000473961.6:c.4314T>C	ENSP00000420201.2:p.Ser1438=
ENST00000476777.6:c.4434T>C	ENSP00000417554.2:p.Ser1478=
ENST00000477152.6:c.4362T>C	ENSP00000419988.2:p.Ser1454=
ENST00000478531.6:c.1128T>C	ENSP00000420412.2:p.Ser376=
ENST00000489037.2:c.4362T>C	ENSP00000420781.2:p.Ser1454=
ENST00000493919.6:c.990T>C	ENSP00000418819.2:p.Ser330=
ENST00000494123.6:c.4440T>C	ENSP00000419103.2:p.Ser1480=
ENST00000497488.2:c.3552T>C	ENSP00000418986.2:p.Ser1184=
ENST00000618469.2:c.4440T>C	ENSP00000478114.2:p.Ser1480=
ENST00000634433.2:c.4317T>C	ENSP00000489431.2:p.Ser1439=
ENST00000644379.2:c.4506T>C	ENSP00000496570.2:p.Ser1502=
ENST00000644555.2:c.990T>C	ENSP00000494614.2:p.Ser330=
ENST00000652672.2:c.4299T>C	ENSP00000498906.2:p.Ser1433=
ENST00000484087.6:c.1002T>C	ENSP00000419481.2:p.Ser334=
ENST00000700182.1:c.1047T>C	ENSP00000514849.1:p.Ser349=
ENST00000357654.9:c.4440T>C MANE Select	ENSP00000350283.3:p.Ser1480=
ENST00000471181.7:c.4503T>C	ENSP00000418960.2:p.Ser1501=
ENST00000644379.1:c.827T>C
ENST00000352993.7:c.1014T>C	ENSP00000312236.5:p.Ser338=
ENST00000357654.7:c.4440T>C	ENSP00000350283.3:p.Ser1480=
ENST00000461221.5:c.*4223T>C	ENSP00000418548.1:n.*4223T>C
ENST00000468300.5:c.1128T>C	ENSP00000417148.1:p.Ser376=
ENST00000471181.6:c.4503T>C	ENSP00000418960.2:p.Ser1501=
ENST00000478531.5:c.1128T>C	ENSP00000420412.1:p.Ser376=
ENST00000484087.5:c.753T>C	ENSP00000419481.1:p.Ser251=
ENST00000487825.5:c.756T>C	ENSP00000418212.1:p.Ser252=
ENST00000491747.6:c.1128T>C	ENSP00000420705.2:p.Ser376=
ENST00000493795.5:c.4299T>C	ENSP00000418775.1:p.Ser1433=
ENST00000493919.5:c.990T>C	ENSP00000418819.1:p.Ser330=
ENST00000586385.5:c.5-12581T>C	ENSP00000465818.1:n.5-12581T>C
ENST00000591534.5:c.-43-2011T>C	ENSP00000467329.1:n.-43-2011T>C
ENST00000591849.5:c.-98-26342T>C	ENSP00000465347.1:n.-98-26342T>C
ENST00000621897.1:n.331T>C
NM_007294.3:c.4440T>C , LRG_292t1:c.4440T>C	NP_009225.1:p.Ser1480=
NM_007297.3:c.4299T>C	NP_009228.2:p.Ser1433=
NM_007298.3:c.1128T>C	NP_009229.2:p.Ser376=
NM_007299.3:c.1128T>C	NP_009230.2:p.Ser376=
NM_007300.3:c.4503T>C	NP_009231.2:p.Ser1501=
NR_027676.1:n.4576T>C
NM_007294.4:c.4440T>C MANE Select	NP_009225.1:p.Ser1480=
NM_007297.4:c.4299T>C	NP_009228.2:p.Ser1433=
NM_007299.4:c.1128T>C	NP_009230.2:p.Ser376=
NM_007300.4:c.4503T>C	NP_009231.2:p.Ser1501=
NR_027676.2:n.4617T>C