Canonical Allele Identifier: CA174761

Gene: CLPTM1L

Linked Data

• ClinVar Variation Id: 161775
• ClinVar RCV Id: RCV000149311
• dbSNP Id: rs193920801
• gnomAD v2: 5-1335219-C-T
• gnomAD v3: 5-1335104-C-T
• gnomAD v4: 5-1335104-C-T
• COSMIC: COSM1179336
• MyVariant Identifiers: chr5:g.1335219C>T (hg19) ; chr5:g.1335104C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1335104C>T , CM000667.2:g.1335104C>T	GRCh38
NC_000005.9:g.1335219C>T , CM000667.1:g.1335219C>T	GRCh37
NC_000005.8:g.1388219C>T	NCBI36
NG_046903.1:g.14962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320895.10:c.749G>A MANE Select	ENSP00000313854.5:p.Arg250His
ENST00000320895.9:c.749G>A	ENSP00000313854.5:p.Arg250His
ENST00000503151.5:n.18G>A
ENST00000507807.3:c.350G>A	ENSP00000423321.1:p.Arg117His
ENST00000508765.5:n.52G>A
ENST00000511786.1:n.486G>A
ENST00000630539.1:c.350G>A	ENSP00000485923.1:p.Arg117His
NM_030782.3:c.749G>A	NP_110409.2:p.Arg250His
NM_030782.4:c.749G>A	NP_110409.2:p.Arg250His
XM_011514144.1:c.746G>A	XP_011512446.1:p.Arg249His
XM_011514144.2:c.746G>A	XP_011512446.1:p.Arg249His
XM_024446221.1:c.749G>A	XP_024301989.1:p.Arg250His
XM_024446222.1:c.215G>A	XP_024301990.1:p.Arg72His
XR_002956182.1:n.792G>A
XR_002956183.1:n.970G>A
NM_030782.5:c.749G>A MANE Select	NP_110409.2:p.Arg250His