Canonical Allele Identifier: CA122958
Gene: PYCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13198
dbSNP Id: rs121918378

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81934371C>T , CM000679.2:g.81934371C>T GRCh38
NC_000017.10:g.79892247C>T , CM000679.1:g.79892247C>T GRCh37
NC_000017.9:g.77485538C>T NCBI36
NG_023032.1:g.7722G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329875.13:c.752G>A MANE Select ENSP00000328858.8:p.Arg251His
ENST00000329875.12:c.752G>A ENSP00000328858.8:p.Arg251His
ENST00000337943.9:c.752G>A ENSP00000336579.5:p.Arg251His
ENST00000402252.6:c.833G>A ENSP00000384949.2:p.Arg278His
ENST00000403172.8:c.659G>A ENSP00000385483.4:p.Arg220His
ENST00000405481.8:c.752G>A ENSP00000386002.4:p.Arg251His
ENST00000577756.5:c.633+282G>A ENSP00000463352.1:n.633+282G>A
ENST00000582198.5:c.662G>A ENSP00000463226.1:p.Arg221His
ENST00000584848.5:c.501+555G>A ENSP00000463342.1:n.501+555G>A
ENST00000619204.4:c.752G>A ENSP00000479793.1:p.Arg251His
ENST00000629768.2:c.633+282G>A ENSP00000485679.1:n.633+282G>A
NM_001282279.1:c.659G>A NP_001269208.1:p.Arg220His
NM_001282280.1:c.752G>A NP_001269209.1:p.Arg251His
NM_001282281.1:c.833G>A NP_001269210.1:p.Arg278His
NM_006907.3:c.752G>A NP_008838.2:p.Arg251His
NM_153824.2:c.752G>A NP_722546.1:p.Arg251His
XM_005256381.1:c.752G>A XP_005256438.1:p.Arg251His
XM_011523583.1:c.752G>A XP_011521885.1:p.Arg251His
XM_011523584.1:c.752G>A XP_011521886.1:p.Arg251His
XM_011523585.1:c.714+282G>A XP_011521887.1:n.714+282G>A
NM_001330523.1:c.633+282G>A NP_001317452.1:n.633+282G>A
XM_005256381.2:c.752G>A XP_005256438.1:p.Arg251His
XM_011523583.2:c.752G>A XP_011521885.1:p.Arg251His
XM_011523584.3:c.752G>A XP_011521886.1:p.Arg251His
XM_011523585.2:c.714+282G>A XP_011521887.1:n.714+282G>A
XM_024450849.1:c.752G>A XP_024306617.1:p.Arg251His
NM_001282279.2:c.659G>A NP_001269208.1:p.Arg220His
NM_001282281.2:c.833G>A NP_001269210.1:p.Arg278His
NM_006907.4:c.752G>A MANE Select NP_008838.2:p.Arg251His
NM_153824.3:c.752G>A NP_722546.1:p.Arg251His
NM_001282280.2:c.752G>A NP_001269209.1:p.Arg251His
NM_001330523.2:c.633+282G>A NP_001317452.1:n.633+282G>A