Canonical Allele Identifier: CA342755879

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155265347A>G (hg19) ; chr1:g.155295556A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295556A>G , CM000663.2:g.155295556A>G	GRCh38
NC_000001.10:g.155265347A>G , CM000663.1:g.155265347A>G	GRCh37
NC_000001.9:g.153531971A>G	NCBI36
NG_011677.1:g.10879T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.388T>C MANE Select	ENSP00000339933.4:p.Ser130Pro
ENST00000434082.3:c.196T>C	ENSP00000398037.3:p.Ser66Pro
ENST00000342741.4:c.388T>C	ENSP00000339933.4:p.Ser130Pro
ENST00000392414.7:c.295T>C	ENSP00000376214.3:p.Ser99Pro
ENST00000434082.2:c.293T>C	ENSP00000398037.2:n.293T>C
NM_000298.5:c.388T>C	NP_000289.1:p.Ser130Pro
NM_181871.3:c.295T>C	NP_870986.1:p.Ser99Pro
XM_005245266.3:c.547T>C	XP_005245323.1:p.Ser183Pro
XM_006711386.2:c.196T>C	XP_006711449.1:p.Ser66Pro
XM_011509639.1:c.547T>C	XP_011507941.1:p.Ser183Pro
XM_011509640.1:c.196T>C	XP_011507942.1:p.Ser66Pro
NM_000298.6:c.388T>C MANE Select	NP_000289.1:p.Ser130Pro
XM_006711386.4:c.196T>C	XP_006711449.1:p.Ser66Pro
XM_011509640.3:c.196T>C	XP_011507942.1:p.Ser66Pro
XM_017001493.1:c.388T>C	XP_016856982.1:p.Ser130Pro
NM_181871.4:c.295T>C	NP_870986.1:p.Ser99Pro