Canonical Allele Identifier: CA421245723

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294667-G-A
• MyVariant Identifiers: chr1:g.155264458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294667G>A , CM000663.2:g.155294667G>A	GRCh38
NC_000001.10:g.155264458G>A , CM000663.1:g.155264458G>A	GRCh37
NC_000001.9:g.153531082G>A	NCBI36
NG_011677.1:g.11768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.780C>T MANE Select	ENSP00000339933.4:p.Asp260=
ENST00000342741.4:c.780C>T	ENSP00000339933.4:p.Asp260=
ENST00000392414.7:c.687C>T	ENSP00000376214.3:p.Asp229=
NM_000298.5:c.780C>T	NP_000289.1:p.Asp260=
NM_181871.3:c.687C>T	NP_870986.1:p.Asp229=
XM_005245266.3:c.939C>T	XP_005245323.1:p.Asp313=
XM_006711386.2:c.588C>T	XP_006711449.1:p.Asp196=
XM_011509639.1:c.939C>T	XP_011507941.1:p.Asp313=
XM_011509640.1:c.588C>T	XP_011507942.1:p.Asp196=
NM_000298.6:c.780C>T MANE Select	NP_000289.1:p.Asp260=
XM_006711386.4:c.588C>T	XP_006711449.1:p.Asp196=
XM_011509640.3:c.588C>T	XP_011507942.1:p.Asp196=
XM_017001493.1:c.780C>T	XP_016856982.1:p.Asp260=
NM_181871.4:c.687C>T	NP_870986.1:p.Asp229=