Canonical Allele Identifier: CA342748428

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260425C>T (hg19) ; chr1:g.155290634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290634C>T , CM000663.2:g.155290634C>T	GRCh38
NC_000001.10:g.155260425C>T , CM000663.1:g.155260425C>T	GRCh37
NC_000001.9:g.153527049C>T	NCBI36
NG_011677.1:g.15801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1663G>A MANE Select	ENSP00000339933.4:p.Val555Met
ENST00000342741.4:c.1663G>A	ENSP00000339933.4:p.Val555Met
ENST00000392414.7:c.1570G>A	ENSP00000376214.3:p.Val524Met
NM_000298.5:c.1663G>A	NP_000289.1:p.Val555Met
NM_181871.3:c.1570G>A	NP_870986.1:p.Val524Met
XM_005245266.3:c.1822G>A	XP_005245323.1:p.Val608Met
XM_006711386.2:c.1471G>A	XP_006711449.1:p.Val491Met
XM_011509640.1:c.1471G>A	XP_011507942.1:p.Val491Met
NM_000298.6:c.1663G>A MANE Select	NP_000289.1:p.Val555Met
XM_006711386.4:c.1471G>A	XP_006711449.1:p.Val491Met
XM_011509640.3:c.1471G>A	XP_011507942.1:p.Val491Met
NM_181871.4:c.1570G>A	NP_870986.1:p.Val524Met