Canonical Allele Identifier: CA342755901

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265352G>T (hg19) ; chr1:g.155295561G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295561G>T , CM000663.2:g.155295561G>T	GRCh38
NC_000001.10:g.155265352G>T , CM000663.1:g.155265352G>T	GRCh37
NC_000001.9:g.153531976G>T	NCBI36
NG_011677.1:g.10874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.383C>A MANE Select	ENSP00000339933.4:p.Ala128Asp
ENST00000434082.3:c.191C>A	ENSP00000398037.3:p.Ala64Asp
ENST00000342741.4:c.383C>A	ENSP00000339933.4:p.Ala128Asp
ENST00000392414.7:c.290C>A	ENSP00000376214.3:p.Ala97Asp
ENST00000434082.2:c.288C>A	ENSP00000398037.2:n.288C>A
NM_000298.5:c.383C>A	NP_000289.1:p.Ala128Asp
NM_181871.3:c.290C>A	NP_870986.1:p.Ala97Asp
XM_005245266.3:c.542C>A	XP_005245323.1:p.Ala181Asp
XM_006711386.2:c.191C>A	XP_006711449.1:p.Ala64Asp
XM_011509639.1:c.542C>A	XP_011507941.1:p.Ala181Asp
XM_011509640.1:c.191C>A	XP_011507942.1:p.Ala64Asp
NM_000298.6:c.383C>A MANE Select	NP_000289.1:p.Ala128Asp
XM_006711386.4:c.191C>A	XP_006711449.1:p.Ala64Asp
XM_011509640.3:c.191C>A	XP_011507942.1:p.Ala64Asp
XM_017001493.1:c.383C>A	XP_016856982.1:p.Ala128Asp
NM_181871.4:c.290C>A	NP_870986.1:p.Ala97Asp