Canonical Allele Identifier: CA400416917

Gene: CLTC PTRH2

Linked Data

• ClinVar Variation Id: 489038
• ClinVar RCV Id: RCV000579309
• dbSNP Id: rs750846632
• MyVariant Identifiers: chr17:g.57758419G>A (hg19) ; chr17:g.59681058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59681058G>A , CM000679.2:g.59681058G>A	GRCh38
NC_000017.10:g.57758419G>A , CM000679.1:g.57758419G>A	GRCh37
NC_000017.9:g.55113201G>A	NCBI36
NG_047043.1:g.66370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472651.6:c.3065+1G>A (CLTC)	ENSP00000465200.2:n.3065+1G>A
ENST00000475458.2:c.416+1G>A (CLTC)	ENSP00000461977.2:n.416+1G>A
ENST00000580081.2:c.3077+1G>A (CLTC)	ENSP00000462592.2:n.3077+1G>A
ENST00000700707.1:c.3065+1G>A (CLTC)	ENSP00000515147.1:n.3065+1G>A
ENST00000700708.1:c.2891+1G>A (CLTC)	ENSP00000515148.1:n.2891+1G>A
ENST00000700709.1:c.3080+1G>A (CLTC)	ENSP00000515149.1:n.3080+1G>A
ENST00000700710.1:c.2777+1G>A (CLTC)	ENSP00000515150.1:n.2777+1G>A
ENST00000700711.1:c.3077+1G>A (CLTC)	ENSP00000515151.1:n.3077+1G>A
ENST00000700712.1:c.2972+1G>A (CLTC)	ENSP00000515152.1:n.2972+1G>A
ENST00000700713.1:c.3068+1G>A (CLTC)	ENSP00000515153.1:n.3068+1G>A
ENST00000700714.1:c.2567+1G>A (CLTC)	ENSP00000515154.1:n.2567+1G>A
ENST00000269122.8:c.3065+1G>A (CLTC) MANE Select	ENSP00000269122.3:n.3065+1G>A
ENST00000269122.7:c.3065+1G>A (CLTC)	ENSP00000269122.3:n.3065+1G>A
ENST00000393043.5:c.3065+1G>A (CLTC)	ENSP00000376763.1:n.3065+1G>A
ENST00000579456.5:c.301-1260G>A (CLTC)	ENSP00000462252.1:n.301-1260G>A
ENST00000587935.1:n.46-1514C>T (PTRH2)
ENST00000621829.4:c.3077+1G>A (CLTC)	ENSP00000479606.1:n.3077+1G>A
NM_001288653.1:c.3077+1G>A (CLTC)	NP_001275582.1:n.3077+1G>A
NM_004859.3:c.3065+1G>A (CLTC)	NP_004850.1:n.3065+1G>A
XM_005257012.2:c.3065+1G>A (CLTC)	XP_005257069.1:n.3065+1G>A
XM_011524279.1:c.3065+1G>A (CLTC)	XP_011522581.1:n.3065+1G>A
XM_011524280.1:c.2972+1G>A (CLTC)	XP_011522582.1:n.2972+1G>A
XM_011524281.1:c.3065+1G>A (CLTC)	XP_011522583.1:n.3065+1G>A
XM_005257012.4:c.3065+1G>A (CLTC)	XP_005257069.1:n.3065+1G>A
NM_004859.4:c.3065+1G>A (CLTC) MANE Select	NP_004850.1:n.3065+1G>A
NM_001288653.2:c.3077+1G>A (CLTC)	NP_001275582.1:n.3077+1G>A