Canonical Allele Identifier: CA215079
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000001575
RCV000224660
RCV003421893
ClinVar Variation:
1511
COSMIC:
COSM675770
dbSNP:
113403872
gnomAD v2:
1:155261636 C / T
gnomAD v3:
1:155291845 C / T
gnomAD v4:
chr1-155291845-C-T
Joint Max Group AF 0.00096556 (NFE)
Genomes Max Group AF 0.00076882 (NFE)
Exomes Max Group AF 0.00096703 (NFE)
MyVariant.info:
GRCh38 chr1:g.155291845C>T
GRCh37 chr1:g.155261636C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155291845C>T , CM000663.2:g.155291845C>T GRCh38
NC_000001.10:g.155261636C>T , CM000663.1:g.155261636C>T GRCh37
NC_000001.9:g.153528260C>T NCBI36
NG_011677.1:g.14590G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1529G>A MANE Select ENSP00000339933.4:p.Arg510Gln
ENST00000342741.4:c.1529G>A ENSP00000339933.4:p.Arg510Gln
ENST00000392414.7:c.1436G>A ENSP00000376214.3:p.Arg479Gln
NM_000298.5:c.1529G>A NP_000289.1:p.Arg510Gln
NM_181871.3:c.1436G>A NP_870986.1:p.Arg479Gln
XM_005245266.3:c.1688G>A XP_005245323.1:p.Arg563Gln
XM_006711386.2:c.1337G>A XP_006711449.1:p.Arg446Gln
XM_011509640.1:c.1337G>A XP_011507942.1:p.Arg446Gln
NM_000298.6:c.1529G>A MANE Select NP_000289.1:p.Arg510Gln
XM_006711386.4:c.1337G>A XP_006711449.1:p.Arg446Gln
XM_011509640.3:c.1337G>A XP_011507942.1:p.Arg446Gln
NM_181871.4:c.1436G>A NP_870986.1:p.Arg479Gln
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