Canonical Allele Identifier: CA557548037

Gene: CLPTM1L

Linked Data

• dbSNP Id: rs1327323579
• gnomAD v2: 5-1320642-C-T
• gnomAD v3: 5-1320527-C-T
• gnomAD v4: 5-1320527-C-T
• MyVariant Identifiers: chr5:g.1320642C>T (hg19) ; chr5:g.1320527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1320527C>T , CM000667.2:g.1320527C>T	GRCh38
NC_000005.9:g.1320642C>T , CM000667.1:g.1320642C>T	GRCh37
NC_000005.8:g.1373642C>T	NCBI36
NG_046903.1:g.29539G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320895.10:c.1532+89G>A MANE Select	ENSP00000313854.5:n.1532+89G>A
ENST00000320895.9:c.1532+89G>A	ENSP00000313854.5:n.1532+89G>A
ENST00000503042.5:n.2954+89G>A
ENST00000503534.5:n.463+89G>A
ENST00000506641.5:n.693+89G>A
ENST00000507807.3:c.1025+89G>A	ENSP00000423321.1:n.1025+89G>A
ENST00000511268.6:n.385G>A
ENST00000515719.5:n.227+89G>A
ENST00000630539.1:c.1025+89G>A	ENSP00000485923.1:n.1025+89G>A
NM_030782.3:c.1532+89G>A	NP_110409.2:n.1532+89G>A
NM_030782.4:c.1532+89G>A	NP_110409.2:n.1532+89G>A
XM_011514144.1:c.1529+89G>A	XP_011512446.1:n.1529+89G>A
XM_011514144.2:c.1529+89G>A	XP_011512446.1:n.1529+89G>A
XM_024446221.1:c.1616+89G>A	XP_024301989.1:n.1616+89G>A
XM_024446222.1:c.998+89G>A	XP_024301990.1:n.998+89G>A
XR_002956182.1:n.2478+89G>A
XR_002956183.1:n.2656+89G>A
NM_030782.5:c.1532+89G>A MANE Select	NP_110409.2:n.1532+89G>A