Canonical Allele Identifier: CA342755934

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265357G>T (hg19) ; chr1:g.155295566G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295566G>T , CM000663.2:g.155295566G>T	GRCh38
NC_000001.10:g.155265357G>T , CM000663.1:g.155265357G>T	GRCh37
NC_000001.9:g.153531981G>T	NCBI36
NG_011677.1:g.10869C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.378C>A MANE Select	ENSP00000339933.4:p.Tyr126Ter
ENST00000434082.3:c.186C>A	ENSP00000398037.3:p.Tyr62Ter
ENST00000342741.4:c.378C>A	ENSP00000339933.4:p.Tyr126Ter
ENST00000392414.7:c.285C>A	ENSP00000376214.3:p.Tyr95Ter
ENST00000434082.2:c.283C>A	ENSP00000398037.2:n.283C>A
NM_000298.5:c.378C>A	NP_000289.1:p.Tyr126Ter
NM_181871.3:c.285C>A	NP_870986.1:p.Tyr95Ter
XM_005245266.3:c.537C>A	XP_005245323.1:p.Tyr179Ter
XM_006711386.2:c.186C>A	XP_006711449.1:p.Tyr62Ter
XM_011509639.1:c.537C>A	XP_011507941.1:p.Tyr179Ter
XM_011509640.1:c.186C>A	XP_011507942.1:p.Tyr62Ter
NM_000298.6:c.378C>A MANE Select	NP_000289.1:p.Tyr126Ter
XM_006711386.4:c.186C>A	XP_006711449.1:p.Tyr62Ter
XM_011509640.3:c.186C>A	XP_011507942.1:p.Tyr62Ter
XM_017001493.1:c.378C>A	XP_016856982.1:p.Tyr126Ter
NM_181871.4:c.285C>A	NP_870986.1:p.Tyr95Ter