Canonical Allele Identifier: CA1144334

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2635060
• ClinVar RCV Id: RCV003402740
• dbSNP Id: rs780192373
• ExAC: 1:155265275 C / T
• gnomAD v2: 1-155265275-C-T
• gnomAD v4: 1-155295484-C-T
• MyVariant Identifiers: chr1:g.155265275C>T (hg19) ; chr1:g.155295484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295484C>T , CM000663.2:g.155295484C>T	GRCh38
NC_000001.10:g.155265275C>T , CM000663.1:g.155265275C>T	GRCh37
NC_000001.9:g.153531899C>T	NCBI36
NG_011677.1:g.10951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.460G>A MANE Select	ENSP00000339933.4:p.Ala154Thr
ENST00000434082.3:c.268G>A	ENSP00000398037.3:p.Ala90Thr
ENST00000342741.4:c.460G>A	ENSP00000339933.4:p.Ala154Thr
ENST00000392414.7:c.367G>A	ENSP00000376214.3:p.Ala123Thr
ENST00000434082.2:c.365G>A	ENSP00000398037.2:n.365G>A
NM_000298.5:c.460G>A	NP_000289.1:p.Ala154Thr
NM_181871.3:c.367G>A	NP_870986.1:p.Ala123Thr
XM_005245266.3:c.619G>A	XP_005245323.1:p.Ala207Thr
XM_006711386.2:c.268G>A	XP_006711449.1:p.Ala90Thr
XM_011509639.1:c.619G>A	XP_011507941.1:p.Ala207Thr
XM_011509640.1:c.268G>A	XP_011507942.1:p.Ala90Thr
NM_000298.6:c.460G>A MANE Select	NP_000289.1:p.Ala154Thr
XM_006711386.4:c.268G>A	XP_006711449.1:p.Ala90Thr
XM_011509640.3:c.268G>A	XP_011507942.1:p.Ala90Thr
XM_017001493.1:c.460G>A	XP_016856982.1:p.Ala154Thr
NM_181871.4:c.367G>A	NP_870986.1:p.Ala123Thr