Canonical Allele Identifier: CA368785040

Gene: PUS7

Linked Data

• ClinVar Variation Id: 1329591
• ClinVar RCV Id: RCV001799899
• dbSNP Id: rs2133008651
• MyVariant Identifiers: chr7:g.105098288C>T (hg19) ; chr7:g.105457841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105457841C>T , CM000669.2:g.105457841C>T	GRCh38
NC_000007.13:g.105098288C>T , CM000669.1:g.105098288C>T	GRCh37
NC_000007.12:g.104885524C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000469408.6:c.1935G>A MANE Select	ENSP00000417402.1:p.Met645Ile
ENST00000356362.6:c.1935G>A	ENSP00000348722.2:p.Met645Ile
ENST00000469408.5:c.1935G>A	ENSP00000417402.1:p.Met645Ile
ENST00000481939.5:c.*643+1327G>A	ENSP00000418794.1:n.*643+1327G>A
NM_019042.3:c.1935G>A	NP_061915.2:p.Met645Ile
XM_005250462.2:c.1953G>A	XP_005250519.1:p.Met651Ile
XM_005250463.2:c.1935G>A	XP_005250520.1:p.Met645Ile
XM_011516336.1:c.1851G>A	XP_011514638.1:p.Met617Ile
XR_927481.1:n.2103G>A
NM_001318163.1:c.1953G>A	NP_001305092.1:p.Met651Ile
NM_001318164.1:c.1935G>A	NP_001305093.1:p.Met645Ile
NM_019042.4:c.1935G>A	NP_061915.2:p.Met645Ile
XM_005250462.4:c.1953G>A	XP_005250519.1:p.Met651Ile
XM_011516336.3:c.1851G>A	XP_011514638.1:p.Met617Ile
XM_017012367.2:c.1953G>A	XP_016867856.1:p.Met651Ile
XM_017012368.2:c.1026G>A	XP_016867857.1:p.Met342Ile
XR_927481.3:n.2103G>A
NM_019042.5:c.1935G>A MANE Select	NP_061915.2:p.Met645Ile
NM_001318164.2:c.1935G>A	NP_001305093.1:p.Met645Ile