Canonical Allele Identifier: CA8845230
Gene: PYCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1176367
ClinVar RCV Id: RCV001531874
dbSNP Id: rs143982437

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.81933243G>T , CM000679.2:g.81933243G>T GRCh38
NC_000017.10:g.79891119G>T , CM000679.1:g.79891119G>T GRCh37
NC_000017.9:g.77484410G>T NCBI36
NG_023032.1:g.8850C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329875.13:c.931C>A MANE Select ENSP00000328858.8:p.Arg311Ser
ENST00000329875.12:c.931C>A ENSP00000328858.8:p.Arg311Ser
ENST00000337943.9:c.867+64C>A ENSP00000336579.5:n.867+64C>A
ENST00000402252.6:c.1012C>A ENSP00000384949.2:p.Arg338Ser
ENST00000403172.8:c.838C>A ENSP00000385483.4:p.Arg280Ser
ENST00000577756.5:c.*113C>A ENSP00000463352.1:n.*113C>A
ENST00000584848.5:c.635C>A ENSP00000463342.1:n.635C>A
ENST00000619204.4:c.931C>A ENSP00000479793.1:p.Arg311Ser
ENST00000629768.2:c.*113C>A ENSP00000485679.1:n.*113C>A
NM_001282279.1:c.838C>A NP_001269208.1:p.Arg280Ser
NM_001282280.1:c.931C>A NP_001269209.1:p.Arg311Ser
NM_001282281.1:c.1012C>A NP_001269210.1:p.Arg338Ser
NM_006907.3:c.931C>A NP_008838.2:p.Arg311Ser
NM_153824.2:c.867+64C>A NP_722546.1:n.867+64C>A
XM_005256381.1:c.931C>A XP_005256438.1:p.Arg311Ser
XM_011523583.1:c.931C>A XP_011521885.1:p.Arg311Ser
XM_011523584.1:c.931C>A XP_011521886.1:p.Arg311Ser
XM_011523585.1:c.*113C>A XP_011521887.1:n.*113C>A
NM_001330523.1:c.*113C>A NP_001317452.1:n.*113C>A
XM_005256381.2:c.931C>A XP_005256438.1:p.Arg311Ser
XM_011523583.2:c.931C>A XP_011521885.1:p.Arg311Ser
XM_011523584.3:c.931C>A XP_011521886.1:p.Arg311Ser
XM_011523585.2:c.*113C>A XP_011521887.1:n.*113C>A
XM_024450849.1:c.931C>A XP_024306617.1:p.Arg311Ser
NM_001282279.2:c.838C>A NP_001269208.1:p.Arg280Ser
NM_001282281.2:c.1012C>A NP_001269210.1:p.Arg338Ser
NM_006907.4:c.931C>A MANE Select NP_008838.2:p.Arg311Ser
NM_153824.3:c.867+64C>A NP_722546.1:n.867+64C>A
NM_001282280.2:c.931C>A NP_001269209.1:p.Arg311Ser
NM_001330523.2:c.*113C>A NP_001317452.1:n.*113C>A