Canonical Allele Identifier: CA342748118

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260373C>T (hg19) ; chr1:g.155290582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290582C>T , CM000663.2:g.155290582C>T	GRCh38
NC_000001.10:g.155260373C>T , CM000663.1:g.155260373C>T	GRCh37
NC_000001.9:g.153526997C>T	NCBI36
NG_011677.1:g.15853G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1715G>A MANE Select	ENSP00000339933.4:p.Ser572Asn
ENST00000342741.4:c.1715G>A	ENSP00000339933.4:p.Ser572Asn
ENST00000392414.7:c.1622G>A	ENSP00000376214.3:p.Ser541Asn
NM_000298.5:c.1715G>A	NP_000289.1:p.Ser572Asn
NM_181871.3:c.1622G>A	NP_870986.1:p.Ser541Asn
XM_005245266.3:c.1874G>A	XP_005245323.1:p.Ser625Asn
XM_006711386.2:c.1523G>A	XP_006711449.1:p.Ser508Asn
XM_011509640.1:c.1523G>A	XP_011507942.1:p.Ser508Asn
NM_000298.6:c.1715G>A MANE Select	NP_000289.1:p.Ser572Asn
XM_006711386.4:c.1523G>A	XP_006711449.1:p.Ser508Asn
XM_011509640.3:c.1523G>A	XP_011507942.1:p.Ser508Asn
NM_181871.4:c.1622G>A	NP_870986.1:p.Ser541Asn