Canonical Allele Identifier: CA1144215

Gene: PKLR

Linked Data

• dbSNP Id: rs140575553
• ExAC: 1:155264460 C / T
• gnomAD v2: 1-155264460-C-T
• gnomAD v3: 1-155294669-C-T
• gnomAD v4: 1-155294669-C-T
• COSMIC: COSM3474938
• MyVariant Identifiers: chr1:g.155264460C>T (hg19) ; chr1:g.155294669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294669C>T , CM000663.2:g.155294669C>T	GRCh38
NC_000001.10:g.155264460C>T , CM000663.1:g.155264460C>T	GRCh37
NC_000001.9:g.153531084C>T	NCBI36
NG_011677.1:g.11766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.778G>A MANE Select	ENSP00000339933.4:p.Asp260Asn
ENST00000342741.4:c.778G>A	ENSP00000339933.4:p.Asp260Asn
ENST00000392414.7:c.685G>A	ENSP00000376214.3:p.Asp229Asn
NM_000298.5:c.778G>A	NP_000289.1:p.Asp260Asn
NM_181871.3:c.685G>A	NP_870986.1:p.Asp229Asn
XM_005245266.3:c.937G>A	XP_005245323.1:p.Asp313Asn
XM_006711386.2:c.586G>A	XP_006711449.1:p.Asp196Asn
XM_011509639.1:c.937G>A	XP_011507941.1:p.Asp313Asn
XM_011509640.1:c.586G>A	XP_011507942.1:p.Asp196Asn
NM_000298.6:c.778G>A MANE Select	NP_000289.1:p.Asp260Asn
XM_006711386.4:c.586G>A	XP_006711449.1:p.Asp196Asn
XM_011509640.3:c.586G>A	XP_011507942.1:p.Asp196Asn
XM_017001493.1:c.778G>A	XP_016856982.1:p.Asp260Asn
NM_181871.4:c.685G>A	NP_870986.1:p.Asp229Asn