Canonical Allele Identifier: CA16609726

Gene: CLPTM1L

Linked Data

• ClinVar Variation Id: 402547
• ClinVar RCV Id: RCV000454864
• dbSNP Id: rs200649005
• gnomAD v4: 5-1344394-C-G
• MyVariant Identifiers: chr5:g.1344509C>G (hg19) ; chr5:g.1344394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1344394C>G , CM000667.2:g.1344394C>G	GRCh38
NC_000005.9:g.1344509C>G , CM000667.1:g.1344509C>G	GRCh37
NC_000005.8:g.1397509C>G	NCBI36
NG_046903.1:g.5672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320895.10:c.220G>C MANE Select	ENSP00000313854.5:p.Val74Leu
ENST00000320895.9:c.220G>C	ENSP00000313854.5:p.Val74Leu
ENST00000630539.1:c.-180G>C	ENSP00000485923.1:n.-180G>C
NM_030782.3:c.220G>C	NP_110409.2:p.Val74Leu
NM_030782.4:c.220G>C	NP_110409.2:p.Val74Leu
XM_011514144.1:c.220G>C	XP_011512446.1:p.Val74Leu
XM_011514144.2:c.220G>C	XP_011512446.1:p.Val74Leu
XM_024446221.1:c.220G>C	XP_024301989.1:p.Val74Leu
XR_002956182.1:n.263G>C
XR_002956183.1:n.444G>C
NM_030782.5:c.220G>C MANE Select	NP_110409.2:p.Val74Leu