Canonical Allele Identifier: CA308881877
Gene: CLPTM1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44955416G>A , CM000681.2:g.44955416G>A GRCh38
NC_000019.9:g.45458673G>A , CM000681.1:g.45458673G>A GRCh37
NC_000019.8:g.50150513G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337392.10:c.21G>A MANE Select ENSP00000336994.4:p.Ala7=
ENST00000337392.9:c.21G>A ENSP00000336994.4:p.Ala7=
ENST00000541297.6:c.30+331G>A ENSP00000442011.1:n.30+331G>A
ENST00000546079.5:c.-235+715G>A ENSP00000443192.1:n.-235+715G>A
ENST00000588855.5:n.117+715G>A
ENST00000591304.1:c.21G>A ENSP00000467927.1:p.Ala7=
NM_001282175.1:c.30+331G>A NP_001269104.1:n.30+331G>A
NM_001282176.1:c.-235+715G>A NP_001269105.1:n.-235+715G>A
NM_001294.3:c.21G>A NP_001285.1:p.Ala7=
NM_001294.4:c.21G>A MANE Select NP_001285.1:p.Ala7=
NM_001282175.2:c.30+331G>A NP_001269104.1:n.30+331G>A
NM_001282176.2:c.-235+715G>A NP_001269105.1:n.-235+715G>A