Canonical Allele Identifier: CA342751389

Gene: PKLR

Linked Data

• dbSNP Id: rs1202916217
• gnomAD v2: 1-155261718-G-A
• gnomAD v4: 1-155291927-G-A
• MyVariant Identifiers: chr1:g.155261718G>A (hg19) ; chr1:g.155291927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291927G>A , CM000663.2:g.155291927G>A	GRCh38
NC_000001.10:g.155261718G>A , CM000663.1:g.155261718G>A	GRCh37
NC_000001.9:g.153528342G>A	NCBI36
NG_011677.1:g.14508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1447C>T MANE Select	ENSP00000339933.4:p.Leu483Phe
ENST00000342741.4:c.1447C>T	ENSP00000339933.4:p.Leu483Phe
ENST00000392414.7:c.1354C>T	ENSP00000376214.3:p.Leu452Phe
NM_000298.5:c.1447C>T	NP_000289.1:p.Leu483Phe
NM_181871.3:c.1354C>T	NP_870986.1:p.Leu452Phe
XM_005245266.3:c.1606C>T	XP_005245323.1:p.Leu536Phe
XM_006711386.2:c.1255C>T	XP_006711449.1:p.Leu419Phe
XM_011509640.1:c.1255C>T	XP_011507942.1:p.Leu419Phe
NM_000298.6:c.1447C>T MANE Select	NP_000289.1:p.Leu483Phe
XM_006711386.4:c.1255C>T	XP_006711449.1:p.Leu419Phe
XM_011509640.3:c.1255C>T	XP_011507942.1:p.Leu419Phe
NM_181871.4:c.1354C>T	NP_870986.1:p.Leu452Phe