Canonical Allele Identifier: CA1522594706

Gene: CLPTM1L

Linked Data

• dbSNP Id: rs1752087052
• gnomAD v4: 5-1320526-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1320526G>A , CM000667.2:g.1320526G>A	GRCh38
NC_000005.9:g.1320641G>A , CM000667.1:g.1320641G>A	GRCh37
NC_000005.8:g.1373641G>A	NCBI36
NG_046903.1:g.29540C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320895.10:c.1532+90C>T MANE Select	ENSP00000313854.5:n.1532+90C>T
ENST00000320895.9:c.1532+90C>T	ENSP00000313854.5:n.1532+90C>T
ENST00000503042.5:n.2954+90C>T
ENST00000503534.5:n.463+90C>T
ENST00000506641.5:n.693+90C>T
ENST00000507807.3:c.1025+90C>T	ENSP00000423321.1:n.1025+90C>T
ENST00000511268.6:n.386C>T
ENST00000515719.5:n.227+90C>T
ENST00000630539.1:c.1025+90C>T	ENSP00000485923.1:n.1025+90C>T
NM_030782.3:c.1532+90C>T	NP_110409.2:n.1532+90C>T
NM_030782.4:c.1532+90C>T	NP_110409.2:n.1532+90C>T
XM_011514144.1:c.1529+90C>T	XP_011512446.1:n.1529+90C>T
XM_011514144.2:c.1529+90C>T	XP_011512446.1:n.1529+90C>T
XM_024446221.1:c.1616+90C>T	XP_024301989.1:n.1616+90C>T
XM_024446222.1:c.998+90C>T	XP_024301990.1:n.998+90C>T
XR_002956182.1:n.2478+90C>T
XR_002956183.1:n.2656+90C>T
NM_030782.5:c.1532+90C>T MANE Select	NP_110409.2:n.1532+90C>T