Canonical Allele Identifier: CA342751205

Gene: PKLR

Linked Data

• gnomAD v4: 1-155291876-C-T
• MyVariant Identifiers: chr1:g.155261667C>T (hg19) ; chr1:g.155291876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291876C>T , CM000663.2:g.155291876C>T	GRCh38
NC_000001.10:g.155261667C>T , CM000663.1:g.155261667C>T	GRCh37
NC_000001.9:g.153528291C>T	NCBI36
NG_011677.1:g.14559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1498G>A MANE Select	ENSP00000339933.4:p.Ala500Thr
ENST00000342741.4:c.1498G>A	ENSP00000339933.4:p.Ala500Thr
ENST00000392414.7:c.1405G>A	ENSP00000376214.3:p.Ala469Thr
NM_000298.5:c.1498G>A	NP_000289.1:p.Ala500Thr
NM_181871.3:c.1405G>A	NP_870986.1:p.Ala469Thr
XM_005245266.3:c.1657G>A	XP_005245323.1:p.Ala553Thr
XM_006711386.2:c.1306G>A	XP_006711449.1:p.Ala436Thr
XM_011509640.1:c.1306G>A	XP_011507942.1:p.Ala436Thr
NM_000298.6:c.1498G>A MANE Select	NP_000289.1:p.Ala500Thr
XM_006711386.4:c.1306G>A	XP_006711449.1:p.Ala436Thr
XM_011509640.3:c.1306G>A	XP_011507942.1:p.Ala436Thr
NM_181871.4:c.1405G>A	NP_870986.1:p.Ala469Thr