Canonical Allele Identifier: CA1143987
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1029781
ClinVar RCV Id: RCV001331143
dbSNP Id: rs746257586
ExAC: 1:155261696 C / T
gnomAD v2: 1-155261696-C-T
gnomAD v3: 1-155291905-C-T
gnomAD v4: 1-155291905-C-T
COSMIC: COSM6034484
MyVariant Identifiers: chr1:g.155261696C>T (hg19) chr1:g.155291905C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155291905C>T , CM000663.2:g.155291905C>T GRCh38
NC_000001.10:g.155261696C>T , CM000663.1:g.155261696C>T GRCh37
NC_000001.9:g.153528320C>T NCBI36
NG_011677.1:g.14530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1469G>A MANE Select ENSP00000339933.4:p.Arg490Gln
ENST00000342741.4:c.1469G>A ENSP00000339933.4:p.Arg490Gln
ENST00000392414.7:c.1376G>A ENSP00000376214.3:p.Arg459Gln
NM_000298.5:c.1469G>A NP_000289.1:p.Arg490Gln
NM_181871.3:c.1376G>A NP_870986.1:p.Arg459Gln
XM_005245266.3:c.1628G>A XP_005245323.1:p.Arg543Gln
XM_006711386.2:c.1277G>A XP_006711449.1:p.Arg426Gln
XM_011509640.1:c.1277G>A XP_011507942.1:p.Arg426Gln
NM_000298.6:c.1469G>A MANE Select NP_000289.1:p.Arg490Gln
XM_006711386.4:c.1277G>A XP_006711449.1:p.Arg426Gln
XM_011509640.3:c.1277G>A XP_011507942.1:p.Arg426Gln
NM_181871.4:c.1376G>A NP_870986.1:p.Arg459Gln
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