Canonical Allele Identifier: CA11915846
Gene: CLPTM1L HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1342599C>A
GRCh37 chr5:g.1342714C>A
gnomAD v2:
5:1342714 C / A
gnomAD v3:
5:1342599 C / A
gnomAD v4:
chr5-1342599-C-A
Joint Max Group AF 0.47838173 (AFR)
Genomes Max Group AF 0.47838173 (AFR)
dbSNP:
31489
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1342599C>A , CM000667.2:g.1342599C>A GRCh38
NC_000005.9:g.1342714C>A , CM000667.1:g.1342714C>A GRCh37
NC_000005.8:g.1395714C>A NCBI36
NG_046903.1:g.7467G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320895.10:c.264-739G>T MANE Select ENSP00000313854.5:n.264-739G>T
ENST00000320895.9:c.264-739G>T ENSP00000313854.5:n.264-739G>T
ENST00000630539.1:c.-136-739G>T ENSP00000485923.1:n.-136-739G>T
NM_030782.3:c.264-739G>T NP_110409.2:n.264-739G>T
NM_030782.4:c.264-739G>T NP_110409.2:n.264-739G>T
XM_011514144.1:c.264-739G>T XP_011512446.1:n.264-739G>T
XM_011514144.2:c.264-739G>T XP_011512446.1:n.264-739G>T
XM_024446221.1:c.264-739G>T XP_024301989.1:n.264-739G>T
XR_002956182.1:n.307-739G>T
XR_002956183.1:n.488-739G>T
NM_030782.5:c.264-739G>T MANE Select NP_110409.2:n.264-739G>T
Search 100 bp 5'
Search 100 bp 3'