Canonical Allele Identifier: CA500148422

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 427252
• ClinVar RCV Id: RCV000494825 ; RCV002329168
• dbSNP Id: rs1800707
• MyVariant Identifiers: chr17:g.41234560C>T (hg19) ; chr17:g.43082543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082543C>T , CM000679.2:g.43082543C>T	GRCh38
NC_000017.10:g.41234560C>T , CM000679.1:g.41234560C>T	GRCh37
NC_000017.9:g.38488086C>T	NCBI36
NG_005905.2:g.135441G>A , LRG_292:g.135441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4218G>A	ENSP00000417241.2:p.Lys1406=
ENST00000470026.6:c.4218G>A	ENSP00000419274.2:p.Lys1406=
ENST00000473961.6:c.4092G>A	ENSP00000420201.2:p.Lys1364=
ENST00000476777.6:c.4212G>A	ENSP00000417554.2:p.Lys1404=
ENST00000477152.6:c.4140G>A	ENSP00000419988.2:p.Lys1380=
ENST00000478531.6:c.906G>A	ENSP00000420412.2:p.Lys302=
ENST00000489037.2:c.4140G>A	ENSP00000420781.2:p.Lys1380=
ENST00000493919.6:c.768G>A	ENSP00000418819.2:p.Lys256=
ENST00000494123.6:c.4218G>A	ENSP00000419103.2:p.Lys1406=
ENST00000497488.2:c.3330G>A	ENSP00000418986.2:p.Lys1110=
ENST00000618469.2:c.4218G>A	ENSP00000478114.2:p.Lys1406=
ENST00000634433.2:c.4095G>A	ENSP00000489431.2:p.Lys1365=
ENST00000644379.2:c.4218G>A	ENSP00000496570.2:p.Lys1406=
ENST00000644555.2:c.768G>A	ENSP00000494614.2:p.Lys256=
ENST00000652672.2:c.4077G>A	ENSP00000498906.2:p.Lys1359=
ENST00000484087.6:c.783G>A	ENSP00000419481.2:p.Lys261=
ENST00000700182.1:c.828G>A	ENSP00000514849.1:p.Lys276=
ENST00000357654.9:c.4218G>A MANE Select	ENSP00000350283.3:p.Lys1406=
ENST00000471181.7:c.4218G>A	ENSP00000418960.2:p.Lys1406=
ENST00000644379.1:c.539G>A
ENST00000352993.7:c.792G>A	ENSP00000312236.5:p.Lys264=
ENST00000357654.7:c.4218G>A	ENSP00000350283.3:p.Lys1406=
ENST00000461221.5:c.*4001G>A	ENSP00000418548.1:n.*4001G>A
ENST00000461574.1:c.512G>A
ENST00000468300.5:c.909G>A	ENSP00000417148.1:p.Lys303=
ENST00000471181.6:c.4218G>A	ENSP00000418960.2:p.Lys1406=
ENST00000478531.5:c.906G>A	ENSP00000420412.1:p.Lys302=
ENST00000484087.5:c.531G>A	ENSP00000419481.1:p.Lys177=
ENST00000487825.5:c.534G>A	ENSP00000418212.1:p.Lys178=
ENST00000491747.6:c.909G>A	ENSP00000420705.2:p.Lys303=
ENST00000493795.5:c.4077G>A	ENSP00000418775.1:p.Lys1359=
ENST00000493919.5:c.768G>A	ENSP00000418819.1:p.Lys256=
ENST00000586385.5:c.5-18592G>A	ENSP00000465818.1:n.5-18592G>A
ENST00000591534.5:c.-43-8022G>A	ENSP00000467329.1:n.-43-8022G>A
ENST00000591849.5:c.-98-32353G>A	ENSP00000465347.1:n.-98-32353G>A
ENST00000621897.1:n.112G>A
NM_007294.3:c.4218G>A , LRG_292t1:c.4218G>A	NP_009225.1:p.Lys1406=
NM_007297.3:c.4077G>A	NP_009228.2:p.Lys1359=
NM_007298.3:c.909G>A	NP_009229.2:p.Lys303=
NM_007299.3:c.909G>A	NP_009230.2:p.Lys303=
NM_007300.3:c.4218G>A	NP_009231.2:p.Lys1406=
NR_027676.1:n.4354G>A
NM_007294.4:c.4218G>A MANE Select	NP_009225.1:p.Lys1406=
NM_007297.4:c.4077G>A	NP_009228.2:p.Lys1359=
NM_007299.4:c.909G>A	NP_009230.2:p.Lys303=
NM_007300.4:c.4218G>A	NP_009231.2:p.Lys1406=
NR_027676.2:n.4395G>A