Canonical Allele Identifier: CA443013353

Gene: CLPTM1L

Linked Data

• MyVariant Identifiers: chr5:g.1320733C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1320618C>G , CM000667.2:g.1320618C>G	GRCh38
NC_000005.9:g.1320733C>G , CM000667.1:g.1320733C>G	GRCh37
NC_000005.8:g.1373733C>G	NCBI36
NG_046903.1:g.29448G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000320895.10:c.1530G>C MANE Select	ENSP00000313854.5:p.Arg510=
ENST00000320895.9:c.1530G>C	ENSP00000313854.5:p.Arg510=
ENST00000503042.5:n.2952G>C
ENST00000503534.5:n.461G>C
ENST00000506641.5:n.691G>C
ENST00000507195.5:n.626G>C
ENST00000507807.3:c.1023G>C	ENSP00000423321.1:p.Arg341=
ENST00000511268.6:n.294G>C
ENST00000512451.5:n.338G>C
ENST00000515719.5:n.225G>C
ENST00000630539.1:c.1023G>C	ENSP00000485923.1:p.Arg341=
NM_030782.3:c.1530G>C	NP_110409.2:p.Arg510=
NM_030782.4:c.1530G>C	NP_110409.2:p.Arg510=
XM_011514144.1:c.1527G>C	XP_011512446.1:p.Arg509=
XM_011514144.2:c.1527G>C	XP_011512446.1:p.Arg509=
XM_024446221.1:c.1614G>C	XP_024301989.1:p.Arg538=
XM_024446222.1:c.996G>C	XP_024301990.1:p.Arg332=
XR_002956182.1:n.2476G>C
XR_002956183.1:n.2654G>C
NM_030782.5:c.1530G>C MANE Select	NP_110409.2:p.Arg510=