Canonical Allele Identifier: CA500144750

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865179
• ClinVar RCV Id: RCV001072543
• dbSNP Id: rs2051517669
• MyVariant Identifiers: chr17:g.41209120A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057103A>G , CM000679.2:g.43057103A>G	GRCh38
NC_000017.10:g.41209120A>G , CM000679.1:g.41209120A>G	GRCh37
NC_000017.9:g.38462646A>G	NCBI36
NG_005905.2:g.160881T>C , LRG_292:g.160881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5223T>C	ENSP00000417241.2:p.Asn1741=
ENST00000470026.6:c.5226T>C	ENSP00000419274.2:p.Asn1742=
ENST00000473961.6:c.5100T>C	ENSP00000420201.2:p.Asn1700=
ENST00000476777.6:c.5220T>C	ENSP00000417554.2:p.Asn1740=
ENST00000477152.6:c.5148T>C	ENSP00000419988.2:p.Asn1716=
ENST00000478531.6:c.1914T>C	ENSP00000420412.2:p.Asn638=
ENST00000489037.2:c.5148T>C	ENSP00000420781.2:p.Asn1716=
ENST00000493919.6:c.1776T>C	ENSP00000418819.2:p.Asn592=
ENST00000494123.6:c.5226T>C	ENSP00000419103.2:p.Asn1742=
ENST00000497488.2:c.4338T>C	ENSP00000418986.2:p.Asn1446=
ENST00000618469.2:c.5226T>C	ENSP00000478114.2:p.Asn1742=
ENST00000634433.2:c.5103T>C	ENSP00000489431.2:p.Asn1701=
ENST00000644379.2:c.5292T>C	ENSP00000496570.2:p.Asn1764=
ENST00000644555.2:c.1776T>C	ENSP00000494614.2:p.Asn592=
ENST00000652672.2:c.5085T>C	ENSP00000498906.2:p.Asn1695=
ENST00000484087.6:c.1788T>C	ENSP00000419481.2:p.Asn596=
ENST00000357654.9:c.5226T>C MANE Select	ENSP00000350283.3:p.Asn1742=
ENST00000471181.7:c.5289T>C	ENSP00000418960.2:p.Asn1763=
ENST00000644379.1:c.1613T>C
ENST00000352993.7:c.1800T>C	ENSP00000312236.5:p.Asn600=
ENST00000357654.7:c.5226T>C	ENSP00000350283.3:p.Asn1742=
ENST00000461221.5:c.*5009T>C	ENSP00000418548.1:n.*5009T>C
ENST00000468300.5:c.1914T>C	ENSP00000417148.1:p.Asn638=
ENST00000471181.6:c.5289T>C	ENSP00000418960.2:p.Asn1763=
ENST00000491747.6:c.1914T>C	ENSP00000420705.2:p.Asn638=
ENST00000493795.5:c.5085T>C	ENSP00000418775.1:p.Asn1695=
ENST00000586385.5:c.156T>C	ENSP00000465818.1:p.Asn52=
ENST00000591534.5:c.699T>C	ENSP00000467329.1:p.Asn233=
ENST00000591849.5:c.-98-6913T>C	ENSP00000465347.1:n.-98-6913T>C
NM_007294.3:c.5226T>C , LRG_292t1:c.5226T>C	NP_009225.1:p.Asn1742=
NM_007297.3:c.5085T>C	NP_009228.2:p.Asn1695=
NM_007298.3:c.1914T>C	NP_009229.2:p.Asn638=
NM_007299.3:c.1914T>C	NP_009230.2:p.Asn638=
NM_007300.3:c.5289T>C	NP_009231.2:p.Asn1763=
NR_027676.1:n.5362T>C
NM_007294.4:c.5226T>C MANE Select	NP_009225.1:p.Asn1742=
NM_007297.4:c.5085T>C	NP_009228.2:p.Asn1695=
NM_007299.4:c.1914T>C	NP_009230.2:p.Asn638=
NM_007300.4:c.5289T>C	NP_009231.2:p.Asn1763=
NR_027676.2:n.5403T>C