Canonical Allele Identifier: CA1143924

Gene: PKLR

Linked Data

• ClinVar Variation Id: 292805
• ClinVar RCV Id: RCV000358170 ; RCV000901437
• dbSNP Id: rs140859641
• ExAC: 1:155260402 G / A
• gnomAD v2: 1-155260402-G-A
• gnomAD v3: 1-155290611-G-A
• gnomAD v4: 1-155290611-G-A
• MyVariant Identifiers: chr1:g.155260402G>A (hg19) ; chr1:g.155290611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290611G>A , CM000663.2:g.155290611G>A	GRCh38
NC_000001.10:g.155260402G>A , CM000663.1:g.155260402G>A	GRCh37
NC_000001.9:g.153527026G>A	NCBI36
NG_011677.1:g.15824C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.1686C>T MANE Select	ENSP00000339933.4:p.Ser562=
ENST00000342741.4:c.1686C>T	ENSP00000339933.4:p.Ser562=
ENST00000392414.7:c.1593C>T	ENSP00000376214.3:p.Ser531=
NM_000298.5:c.1686C>T	NP_000289.1:p.Ser562=
NM_181871.3:c.1593C>T	NP_870986.1:p.Ser531=
XM_005245266.3:c.1845C>T	XP_005245323.1:p.Ser615=
XM_006711386.2:c.1494C>T	XP_006711449.1:p.Ser498=
XM_011509640.1:c.1494C>T	XP_011507942.1:p.Ser498=
NM_000298.6:c.1686C>T MANE Select	NP_000289.1:p.Ser562=
XM_006711386.4:c.1494C>T	XP_006711449.1:p.Ser498=
XM_011509640.3:c.1494C>T	XP_011507942.1:p.Ser498=
NM_181871.4:c.1593C>T	NP_870986.1:p.Ser531=