Canonical Allele Identifier: CA342750988

Gene: PKLR

Linked Data

• dbSNP Id: rs1572052047
• MyVariant Identifiers: chr1:g.155261638G>T (hg19) ; chr1:g.155291847G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291847G>T , CM000663.2:g.155291847G>T	GRCh38
NC_000001.10:g.155261638G>T , CM000663.1:g.155261638G>T	GRCh37
NC_000001.9:g.153528262G>T	NCBI36
NG_011677.1:g.14588C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1527C>A MANE Select	ENSP00000339933.4:p.Cys509Ter
ENST00000342741.4:c.1527C>A	ENSP00000339933.4:p.Cys509Ter
ENST00000392414.7:c.1434C>A	ENSP00000376214.3:p.Cys478Ter
NM_000298.5:c.1527C>A	NP_000289.1:p.Cys509Ter
NM_181871.3:c.1434C>A	NP_870986.1:p.Cys478Ter
XM_005245266.3:c.1686C>A	XP_005245323.1:p.Cys562Ter
XM_006711386.2:c.1335C>A	XP_006711449.1:p.Cys445Ter
XM_011509640.1:c.1335C>A	XP_011507942.1:p.Cys445Ter
NM_000298.6:c.1527C>A MANE Select	NP_000289.1:p.Cys509Ter
XM_006711386.4:c.1335C>A	XP_006711449.1:p.Cys445Ter
XM_011509640.3:c.1335C>A	XP_011507942.1:p.Cys445Ter
NM_181871.4:c.1434C>A	NP_870986.1:p.Cys478Ter