Canonical Allele Identifier: CA1144211

Gene: PKLR

Linked Data

• ClinVar Variation Id: 292812
• ClinVar RCV Id: RCV000329780 ; RCV003718148
• dbSNP Id: rs199959447
• ExAC: 1:155264448 G / A
• gnomAD v2: 1-155264448-G-A
• gnomAD v3: 1-155294657-G-A
• gnomAD v4: 1-155294657-G-A
• MyVariant Identifiers: chr1:g.155264448G>A (hg19) ; chr1:g.155294657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294657G>A , CM000663.2:g.155294657G>A	GRCh38
NC_000001.10:g.155264448G>A , CM000663.1:g.155264448G>A	GRCh37
NC_000001.9:g.153531072G>A	NCBI36
NG_011677.1:g.11778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.790C>T MANE Select	ENSP00000339933.4:p.Leu264=
ENST00000342741.4:c.790C>T	ENSP00000339933.4:p.Leu264=
ENST00000392414.7:c.697C>T	ENSP00000376214.3:p.Leu233=
NM_000298.5:c.790C>T	NP_000289.1:p.Leu264=
NM_181871.3:c.697C>T	NP_870986.1:p.Leu233=
XM_005245266.3:c.949C>T	XP_005245323.1:p.Leu317=
XM_006711386.2:c.598C>T	XP_006711449.1:p.Leu200=
XM_011509639.1:c.949C>T	XP_011507941.1:p.Leu317=
XM_011509640.1:c.598C>T	XP_011507942.1:p.Leu200=
NM_000298.6:c.790C>T MANE Select	NP_000289.1:p.Leu264=
XM_006711386.4:c.598C>T	XP_006711449.1:p.Leu200=
XM_011509640.3:c.598C>T	XP_011507942.1:p.Leu200=
XM_017001493.1:c.790C>T	XP_016856982.1:p.Leu264=
NM_181871.4:c.697C>T	NP_870986.1:p.Leu233=