Canonical Allele Identifier: CA1144224

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2689760
• ClinVar RCV Id: RCV003488260
• dbSNP Id: rs555712170
• ExAC: 1:155264505 C / T
• gnomAD v2: 1-155264505-C-T
• gnomAD v3: 1-155294714-C-T
• gnomAD v4: 1-155294714-C-T
• MyVariant Identifiers: chr1:g.155264505C>T (hg19) ; chr1:g.155294714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294714C>T , CM000663.2:g.155294714C>T	GRCh38
NC_000001.10:g.155264505C>T , CM000663.1:g.155264505C>T	GRCh37
NC_000001.9:g.153531129C>T	NCBI36
NG_011677.1:g.11721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.733G>A MANE Select	ENSP00000339933.4:p.Val245Ile
ENST00000342741.4:c.733G>A	ENSP00000339933.4:p.Val245Ile
ENST00000392414.7:c.640G>A	ENSP00000376214.3:p.Val214Ile
NM_000298.5:c.733G>A	NP_000289.1:p.Val245Ile
NM_181871.3:c.640G>A	NP_870986.1:p.Val214Ile
XM_005245266.3:c.892G>A	XP_005245323.1:p.Val298Ile
XM_006711386.2:c.541G>A	XP_006711449.1:p.Val181Ile
XM_011509639.1:c.892G>A	XP_011507941.1:p.Val298Ile
XM_011509640.1:c.541G>A	XP_011507942.1:p.Val181Ile
NM_000298.6:c.733G>A MANE Select	NP_000289.1:p.Val245Ile
XM_006711386.4:c.541G>A	XP_006711449.1:p.Val181Ile
XM_011509640.3:c.541G>A	XP_011507942.1:p.Val181Ile
XM_017001493.1:c.733G>A	XP_016856982.1:p.Val245Ile
NM_181871.4:c.640G>A	NP_870986.1:p.Val214Ile