Canonical Allele Identifier: CA342754321

Gene: PKLR

Linked Data

• ClinVar Variation Id: 1320831
• ClinVar RCV Id: RCV001776810
• dbSNP Id: rs1454650109
• gnomAD v2: 1-155264427-C-A
• gnomAD v4: 1-155294636-C-A
• MyVariant Identifiers: chr1:g.155264427C>A (hg19) ; chr1:g.155294636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294636C>A , CM000663.2:g.155294636C>A	GRCh38
NC_000001.10:g.155264427C>A , CM000663.1:g.155264427C>A	GRCh37
NC_000001.9:g.153531051C>A	NCBI36
NG_011677.1:g.11799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.811G>T MANE Select	ENSP00000339933.4:p.Asp271Tyr
ENST00000342741.4:c.811G>T	ENSP00000339933.4:p.Asp271Tyr
ENST00000392414.7:c.718G>T	ENSP00000376214.3:p.Asp240Tyr
NM_000298.5:c.811G>T	NP_000289.1:p.Asp271Tyr
NM_181871.3:c.718G>T	NP_870986.1:p.Asp240Tyr
XM_005245266.3:c.970G>T	XP_005245323.1:p.Asp324Tyr
XM_006711386.2:c.619G>T	XP_006711449.1:p.Asp207Tyr
XM_011509639.1:c.970G>T	XP_011507941.1:p.Asp324Tyr
XM_011509640.1:c.619G>T	XP_011507942.1:p.Asp207Tyr
NM_000298.6:c.811G>T MANE Select	NP_000289.1:p.Asp271Tyr
XM_006711386.4:c.619G>T	XP_006711449.1:p.Asp207Tyr
XM_011509640.3:c.619G>T	XP_011507942.1:p.Asp207Tyr
XM_017001493.1:c.811G>T	XP_016856982.1:p.Asp271Tyr
NM_181871.4:c.718G>T	NP_870986.1:p.Asp240Tyr