Canonical Allele Identifier: CA342755881

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265347A>T (hg19) ; chr1:g.155295556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295556A>T , CM000663.2:g.155295556A>T	GRCh38
NC_000001.10:g.155265347A>T , CM000663.1:g.155265347A>T	GRCh37
NC_000001.9:g.153531971A>T	NCBI36
NG_011677.1:g.10879T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.388T>A MANE Select	ENSP00000339933.4:p.Ser130Thr
ENST00000434082.3:c.196T>A	ENSP00000398037.3:p.Ser66Thr
ENST00000342741.4:c.388T>A	ENSP00000339933.4:p.Ser130Thr
ENST00000392414.7:c.295T>A	ENSP00000376214.3:p.Ser99Thr
ENST00000434082.2:c.293T>A	ENSP00000398037.2:n.293T>A
NM_000298.5:c.388T>A	NP_000289.1:p.Ser130Thr
NM_181871.3:c.295T>A	NP_870986.1:p.Ser99Thr
XM_005245266.3:c.547T>A	XP_005245323.1:p.Ser183Thr
XM_006711386.2:c.196T>A	XP_006711449.1:p.Ser66Thr
XM_011509639.1:c.547T>A	XP_011507941.1:p.Ser183Thr
XM_011509640.1:c.196T>A	XP_011507942.1:p.Ser66Thr
NM_000298.6:c.388T>A MANE Select	NP_000289.1:p.Ser130Thr
XM_006711386.4:c.196T>A	XP_006711449.1:p.Ser66Thr
XM_011509640.3:c.196T>A	XP_011507942.1:p.Ser66Thr
XM_017001493.1:c.388T>A	XP_016856982.1:p.Ser130Thr
NM_181871.4:c.295T>A	NP_870986.1:p.Ser99Thr