Canonical Allele Identifier: CA342755579

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265281C>A (hg19) ; chr1:g.155295490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295490C>A , CM000663.2:g.155295490C>A	GRCh38
NC_000001.10:g.155265281C>A , CM000663.1:g.155265281C>A	GRCh37
NC_000001.9:g.153531905C>A	NCBI36
NG_011677.1:g.10945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.454G>T MANE Select	ENSP00000339933.4:p.Ala152Ser
ENST00000434082.3:c.262G>T	ENSP00000398037.3:p.Ala88Ser
ENST00000342741.4:c.454G>T	ENSP00000339933.4:p.Ala152Ser
ENST00000392414.7:c.361G>T	ENSP00000376214.3:p.Ala121Ser
ENST00000434082.2:c.359G>T	ENSP00000398037.2:n.359G>T
NM_000298.5:c.454G>T	NP_000289.1:p.Ala152Ser
NM_181871.3:c.361G>T	NP_870986.1:p.Ala121Ser
XM_005245266.3:c.613G>T	XP_005245323.1:p.Ala205Ser
XM_006711386.2:c.262G>T	XP_006711449.1:p.Ala88Ser
XM_011509639.1:c.613G>T	XP_011507941.1:p.Ala205Ser
XM_011509640.1:c.262G>T	XP_011507942.1:p.Ala88Ser
NM_000298.6:c.454G>T MANE Select	NP_000289.1:p.Ala152Ser
XM_006711386.4:c.262G>T	XP_006711449.1:p.Ala88Ser
XM_011509640.3:c.262G>T	XP_011507942.1:p.Ala88Ser
XM_017001493.1:c.454G>T	XP_016856982.1:p.Ala152Ser
NM_181871.4:c.361G>T	NP_870986.1:p.Ala121Ser