Canonical Allele Identifier: CA2673082259

Gene: CLPTM1L

Linked Data

• gnomAD v4: 5-1320608-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1320608G>C , CM000667.2:g.1320608G>C	GRCh38
NC_000005.9:g.1320723G>C , CM000667.1:g.1320723G>C	GRCh37
NC_000005.8:g.1373723G>C	NCBI36
NG_046903.1:g.29458C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000320895.10:c.1532+8C>G MANE Select	ENSP00000313854.5:n.1532+8C>G
ENST00000320895.9:c.1532+8C>G	ENSP00000313854.5:n.1532+8C>G
ENST00000503042.5:n.2954+8C>G
ENST00000503534.5:n.463+8C>G
ENST00000506641.5:n.693+8C>G
ENST00000507807.3:c.1025+8C>G	ENSP00000423321.1:n.1025+8C>G
ENST00000511268.6:n.304C>G
ENST00000515719.5:n.227+8C>G
ENST00000630539.1:c.1025+8C>G	ENSP00000485923.1:n.1025+8C>G
NM_030782.3:c.1532+8C>G	NP_110409.2:n.1532+8C>G
NM_030782.4:c.1532+8C>G	NP_110409.2:n.1532+8C>G
XM_011514144.1:c.1529+8C>G	XP_011512446.1:n.1529+8C>G
XM_011514144.2:c.1529+8C>G	XP_011512446.1:n.1529+8C>G
XM_024446221.1:c.1616+8C>G	XP_024301989.1:n.1616+8C>G
XM_024446222.1:c.998+8C>G	XP_024301990.1:n.998+8C>G
XR_002956182.1:n.2478+8C>G
XR_002956183.1:n.2656+8C>G
NM_030782.5:c.1532+8C>G MANE Select	NP_110409.2:n.1532+8C>G