Canonical Allele Identifier: CA342755952

Gene: PKLR

Linked Data

• ClinVar Variation Id: 1330671
• ClinVar RCV Id: RCV001811792
• dbSNP Id: rs2148208099
• gnomAD v4: 1-155295569-C-T
• MyVariant Identifiers: chr1:g.155265360C>T (hg19) ; chr1:g.155295569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295569C>T , CM000663.2:g.155295569C>T	GRCh38
NC_000001.10:g.155265360C>T , CM000663.1:g.155265360C>T	GRCh37
NC_000001.9:g.153531984C>T	NCBI36
NG_011677.1:g.10866G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.376-1G>A MANE Select	ENSP00000339933.4:n.376-1G>A
ENST00000434082.3:c.184-1G>A	ENSP00000398037.3:n.184-1G>A
ENST00000342741.4:c.376-1G>A	ENSP00000339933.4:n.376-1G>A
ENST00000392414.7:c.283-1G>A	ENSP00000376214.3:n.283-1G>A
ENST00000434082.2:c.281-1G>A	ENSP00000398037.2:n.281-1G>A
NM_000298.5:c.376-1G>A	NP_000289.1:n.376-1G>A
NM_181871.3:c.283-1G>A	NP_870986.1:n.283-1G>A
XM_005245266.3:c.535-1G>A	XP_005245323.1:n.535-1G>A
XM_006711386.2:c.184-1G>A	XP_006711449.1:n.184-1G>A
XM_011509639.1:c.535-1G>A	XP_011507941.1:n.535-1G>A
XM_011509640.1:c.184-1G>A	XP_011507942.1:n.184-1G>A
NM_000298.6:c.376-1G>A MANE Select	NP_000289.1:n.376-1G>A
XM_006711386.4:c.184-1G>A	XP_006711449.1:n.184-1G>A
XM_011509640.3:c.184-1G>A	XP_011507942.1:n.184-1G>A
XM_017001493.1:c.376-1G>A	XP_016856982.1:n.376-1G>A
NM_181871.4:c.283-1G>A	NP_870986.1:n.283-1G>A