Canonical Allele Identifier: CA2580590590

Gene: CLPTM1L

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1320607C>G , CM000667.2:g.1320607C>G	GRCh38
NC_000005.9:g.1320722C>G , CM000667.1:g.1320722C>G	GRCh37
NC_000005.8:g.1373722C>G	NCBI36
NG_046903.1:g.29459G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_030782.5:c.1532+9G>C MANE Select	NP_110409.2:n.1532+9G>C
ENST00000320895.10:c.1532+9G>C MANE Select	ENSP00000313854.5:n.1532+9G>C
NM_030782.3:c.1532+9G>C	NP_110409.2:n.1532+9G>C
NM_030782.4:c.1532+9G>C	NP_110409.2:n.1532+9G>C
ENST00000320895.9:c.1532+9G>C	ENSP00000313854.5:n.1532+9G>C
ENST00000503042.5:n.2954+9G>C
ENST00000503534.5:n.463+9G>C
ENST00000506641.5:n.693+9G>C
ENST00000507807.3:c.1025+9G>C	ENSP00000423321.1:n.1025+9G>C
ENST00000511268.6:n.305G>C
ENST00000515719.5:n.227+9G>C
ENST00000630539.1:c.1025+9G>C	ENSP00000485923.1:n.1025+9G>C
XM_011514144.1:c.1529+9G>C	XP_011512446.1:n.1529+9G>C
XM_011514144.2:c.1529+9G>C	XP_011512446.1:n.1529+9G>C
XM_024446221.1:c.1616+9G>C	XP_024301989.1:n.1616+9G>C
XM_024446222.1:c.998+9G>C	XP_024301990.1:n.998+9G>C
XR_002956182.1:n.2478+9G>C
XR_002956183.1:n.2656+9G>C