Canonical Allele Identifier: CA368789870

Gene: PUS7

Linked Data

• ClinVar Variation Id: 2431797
• ClinVar RCV Id: RCV003130938
• COSMIC: COSM223194
• MyVariant Identifiers: chr7:g.105112620C>T (hg19) ; chr7:g.105472173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105472173C>T , CM000669.2:g.105472173C>T	GRCh38
NC_000007.13:g.105112620C>T , CM000669.1:g.105112620C>T	GRCh37
NC_000007.12:g.104899856C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469408.6:c.1196G>A MANE Select	ENSP00000417402.1:p.Trp399Ter
ENST00000356362.6:c.1196G>A	ENSP00000348722.2:p.Trp399Ter
ENST00000469408.5:c.1196G>A	ENSP00000417402.1:p.Trp399Ter
ENST00000478208.1:n.16G>A
ENST00000481939.5:c.1196G>A	ENSP00000418794.1:p.Trp399Ter
NM_019042.3:c.1196G>A	NP_061915.2:p.Trp399Ter
XM_005250462.2:c.1214G>A	XP_005250519.1:p.Trp405Ter
XM_005250463.2:c.1196G>A	XP_005250520.1:p.Trp399Ter
XM_011516336.1:c.1214G>A	XP_011514638.1:p.Trp405Ter
XR_927481.1:n.1437G>A
NM_001318163.1:c.1214G>A	NP_001305092.1:p.Trp405Ter
NM_001318164.1:c.1196G>A	NP_001305093.1:p.Trp399Ter
NM_019042.4:c.1196G>A	NP_061915.2:p.Trp399Ter
XM_005250462.4:c.1214G>A	XP_005250519.1:p.Trp405Ter
XM_011516336.3:c.1214G>A	XP_011514638.1:p.Trp405Ter
XM_017012367.2:c.1214G>A	XP_016867856.1:p.Trp405Ter
XM_017012368.2:c.389G>A	XP_016867857.1:p.Trp130Ter
XR_001744818.2:n.1437G>A
XR_927481.3:n.1437G>A
NM_019042.5:c.1196G>A MANE Select	NP_061915.2:p.Trp399Ter
NM_001318164.2:c.1196G>A	NP_001305093.1:p.Trp399Ter