Canonical Allele Identifier: CA342755440

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265236G>T (hg19) ; chr1:g.155295445G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295445G>T , CM000663.2:g.155295445G>T	GRCh38
NC_000001.10:g.155265236G>T , CM000663.1:g.155265236G>T	GRCh37
NC_000001.9:g.153531860G>T	NCBI36
NG_011677.1:g.10990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.499C>A MANE Select	ENSP00000339933.4:p.Leu167Met
ENST00000434082.3:c.307C>A	ENSP00000398037.3:p.Leu103Met
ENST00000342741.4:c.499C>A	ENSP00000339933.4:p.Leu167Met
ENST00000392414.7:c.406C>A	ENSP00000376214.3:p.Leu136Met
ENST00000434082.2:c.404C>A	ENSP00000398037.2:n.404C>A
NM_000298.5:c.499C>A	NP_000289.1:p.Leu167Met
NM_181871.3:c.406C>A	NP_870986.1:p.Leu136Met
XM_005245266.3:c.658C>A	XP_005245323.1:p.Leu220Met
XM_006711386.2:c.307C>A	XP_006711449.1:p.Leu103Met
XM_011509639.1:c.658C>A	XP_011507941.1:p.Leu220Met
XM_011509640.1:c.307C>A	XP_011507942.1:p.Leu103Met
NM_000298.6:c.499C>A MANE Select	NP_000289.1:p.Leu167Met
XM_006711386.4:c.307C>A	XP_006711449.1:p.Leu103Met
XM_011509640.3:c.307C>A	XP_011507942.1:p.Leu103Met
XM_017001493.1:c.499C>A	XP_016856982.1:p.Leu167Met
NM_181871.4:c.406C>A	NP_870986.1:p.Leu136Met