Canonical Allele Identifier: CA1144135
Gene: PKLR HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.155294336C>T
GRCh37 chr1:g.155264127C>T
Revel Score:
ENST00000423816 0.902
ENST00000392414 0.902
ENST00000342741 (MANE Select) 0.902
ENST00000271946 0.902
gnomAD v2:
1:155264127 C / T
gnomAD v4:
chr1-155294336-C-T
Joint Max Group AF 0.00002104 (SAS)
Exomes Max Group AF 0.00002194 (SAS)
ClinVar RCV:
RCV002019914
RCV002250798
ClinVar Variation:
1501779
dbSNP:
747097960
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155294336C>T , CM000663.2:g.155294336C>T GRCh38
NC_000001.10:g.155264127C>T , CM000663.1:g.155264127C>T GRCh37
NC_000001.9:g.153530751C>T NCBI36
NG_011677.1:g.12099G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1015G>A MANE Select ENSP00000339933.4:p.Asp339Asn
ENST00000342741.4:c.1015G>A ENSP00000339933.4:p.Asp339Asn
ENST00000392414.7:c.922G>A ENSP00000376214.3:p.Asp308Asn
NM_000298.5:c.1015G>A NP_000289.1:p.Asp339Asn
NM_181871.3:c.922G>A NP_870986.1:p.Asp308Asn
XM_005245266.3:c.1174G>A XP_005245323.1:p.Asp392Asn
XM_006711386.2:c.823G>A XP_006711449.1:p.Asp275Asn
XM_011509639.1:c.1174G>A XP_011507941.1:p.Asp392Asn
XM_011509640.1:c.823G>A XP_011507942.1:p.Asp275Asn
NM_000298.6:c.1015G>A MANE Select NP_000289.1:p.Asp339Asn
XM_006711386.4:c.823G>A XP_006711449.1:p.Asp275Asn
XM_011509640.3:c.823G>A XP_011507942.1:p.Asp275Asn
XM_017001493.1:c.1015G>A XP_016856982.1:p.Asp339Asn
NM_181871.4:c.922G>A NP_870986.1:p.Asp308Asn
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