Canonical Allele Identifier: CA342755498

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265262T>A (hg19) ; chr1:g.155295471T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295471T>A , CM000663.2:g.155295471T>A	GRCh38
NC_000001.10:g.155265262T>A , CM000663.1:g.155265262T>A	GRCh37
NC_000001.9:g.153531886T>A	NCBI36
NG_011677.1:g.10964A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.473A>T MANE Select	ENSP00000339933.4:p.Lys158Met
ENST00000434082.3:c.281A>T	ENSP00000398037.3:p.Lys94Met
ENST00000342741.4:c.473A>T	ENSP00000339933.4:p.Lys158Met
ENST00000392414.7:c.380A>T	ENSP00000376214.3:p.Lys127Met
ENST00000434082.2:c.378A>T	ENSP00000398037.2:n.378A>T
NM_000298.5:c.473A>T	NP_000289.1:p.Lys158Met
NM_181871.3:c.380A>T	NP_870986.1:p.Lys127Met
XM_005245266.3:c.632A>T	XP_005245323.1:p.Lys211Met
XM_006711386.2:c.281A>T	XP_006711449.1:p.Lys94Met
XM_011509639.1:c.632A>T	XP_011507941.1:p.Lys211Met
XM_011509640.1:c.281A>T	XP_011507942.1:p.Lys94Met
NM_000298.6:c.473A>T MANE Select	NP_000289.1:p.Lys158Met
XM_006711386.4:c.281A>T	XP_006711449.1:p.Lys94Met
XM_011509640.3:c.281A>T	XP_011507942.1:p.Lys94Met
XM_017001493.1:c.473A>T	XP_016856982.1:p.Lys158Met
NM_181871.4:c.380A>T	NP_870986.1:p.Lys127Met