Canonical Allele Identifier: CA342754818

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264529C>G (hg19) ; chr1:g.155294738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294738C>G , CM000663.2:g.155294738C>G	GRCh38
NC_000001.10:g.155264529C>G , CM000663.1:g.155264529C>G	GRCh37
NC_000001.9:g.153531153C>G	NCBI36
NG_011677.1:g.11697G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.709G>C MANE Select	ENSP00000339933.4:p.Val237Leu
ENST00000342741.4:c.709G>C	ENSP00000339933.4:p.Val237Leu
ENST00000392414.7:c.616G>C	ENSP00000376214.3:p.Val206Leu
NM_000298.5:c.709G>C	NP_000289.1:p.Val237Leu
NM_181871.3:c.616G>C	NP_870986.1:p.Val206Leu
XM_005245266.3:c.868G>C	XP_005245323.1:p.Val290Leu
XM_006711386.2:c.517G>C	XP_006711449.1:p.Val173Leu
XM_011509639.1:c.868G>C	XP_011507941.1:p.Val290Leu
XM_011509640.1:c.517G>C	XP_011507942.1:p.Val173Leu
NM_000298.6:c.709G>C MANE Select	NP_000289.1:p.Val237Leu
XM_006711386.4:c.517G>C	XP_006711449.1:p.Val173Leu
XM_011509640.3:c.517G>C	XP_011507942.1:p.Val173Leu
XM_017001493.1:c.709G>C	XP_016856982.1:p.Val237Leu
NM_181871.4:c.616G>C	NP_870986.1:p.Val206Leu