Canonical Allele Identifier: CA342755453

Gene: PKLR

Linked Data

• dbSNP Id: rs1220156417
• COSMIC: COSM1334627
• MyVariant Identifiers: chr1:g.155265244G>A (hg19) ; chr1:g.155295453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295453G>A , CM000663.2:g.155295453G>A	GRCh38
NC_000001.10:g.155265244G>A , CM000663.1:g.155265244G>A	GRCh37
NC_000001.9:g.153531868G>A	NCBI36
NG_011677.1:g.10982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.491C>T MANE Select	ENSP00000339933.4:p.Thr164Ile
ENST00000434082.3:c.299C>T	ENSP00000398037.3:p.Thr100Ile
ENST00000342741.4:c.491C>T	ENSP00000339933.4:p.Thr164Ile
ENST00000392414.7:c.398C>T	ENSP00000376214.3:p.Thr133Ile
ENST00000434082.2:c.396C>T	ENSP00000398037.2:n.396C>T
NM_000298.5:c.491C>T	NP_000289.1:p.Thr164Ile
NM_181871.3:c.398C>T	NP_870986.1:p.Thr133Ile
XM_005245266.3:c.650C>T	XP_005245323.1:p.Thr217Ile
XM_006711386.2:c.299C>T	XP_006711449.1:p.Thr100Ile
XM_011509639.1:c.650C>T	XP_011507941.1:p.Thr217Ile
XM_011509640.1:c.299C>T	XP_011507942.1:p.Thr100Ile
NM_000298.6:c.491C>T MANE Select	NP_000289.1:p.Thr164Ile
XM_006711386.4:c.299C>T	XP_006711449.1:p.Thr100Ile
XM_011509640.3:c.299C>T	XP_011507942.1:p.Thr100Ile
XM_017001493.1:c.491C>T	XP_016856982.1:p.Thr164Ile
NM_181871.4:c.398C>T	NP_870986.1:p.Thr133Ile