Canonical Allele Identifier: CA342750267

Gene: PKLR

Linked Data

• ClinVar Variation Id: 806233
• ClinVar RCV Id: RCV000994122
• dbSNP Id: rs1572051895
• MyVariant Identifiers: chr1:g.155261558C>A (hg19) ; chr1:g.155291767C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291767C>A , CM000663.2:g.155291767C>A	GRCh38
NC_000001.10:g.155261558C>A , CM000663.1:g.155261558C>A	GRCh37
NC_000001.9:g.153528182C>A	NCBI36
NG_011677.1:g.14668G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1607G>T MANE Select	ENSP00000339933.4:p.Gly536Val
ENST00000342741.4:c.1607G>T	ENSP00000339933.4:p.Gly536Val
ENST00000392414.7:c.1514G>T	ENSP00000376214.3:p.Gly505Val
NM_000298.5:c.1607G>T	NP_000289.1:p.Gly536Val
NM_181871.3:c.1514G>T	NP_870986.1:p.Gly505Val
XM_005245266.3:c.1766G>T	XP_005245323.1:p.Gly589Val
XM_006711386.2:c.1415G>T	XP_006711449.1:p.Gly472Val
XM_011509640.1:c.1415G>T	XP_011507942.1:p.Gly472Val
NM_000298.6:c.1607G>T MANE Select	NP_000289.1:p.Gly536Val
XM_006711386.4:c.1415G>T	XP_006711449.1:p.Gly472Val
XM_011509640.3:c.1415G>T	XP_011507942.1:p.Gly472Val
NM_181871.4:c.1514G>T	NP_870986.1:p.Gly505Val