Canonical Allele Identifier: CA342748658

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290672-A-G
• MyVariant Identifiers: chr1:g.155260463A>G (hg19) ; chr1:g.155290672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290672A>G , CM000663.2:g.155290672A>G	GRCh38
NC_000001.10:g.155260463A>G , CM000663.1:g.155260463A>G	GRCh37
NC_000001.9:g.153527087A>G	NCBI36
NG_011677.1:g.15763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1625T>C MANE Select	ENSP00000339933.4:p.Leu542Pro
ENST00000342741.4:c.1625T>C	ENSP00000339933.4:p.Leu542Pro
ENST00000392414.7:c.1532T>C	ENSP00000376214.3:p.Leu511Pro
NM_000298.5:c.1625T>C	NP_000289.1:p.Leu542Pro
NM_181871.3:c.1532T>C	NP_870986.1:p.Leu511Pro
XM_005245266.3:c.1784T>C	XP_005245323.1:p.Leu595Pro
XM_006711386.2:c.1433T>C	XP_006711449.1:p.Leu478Pro
XM_011509640.1:c.1433T>C	XP_011507942.1:p.Leu478Pro
NM_000298.6:c.1625T>C MANE Select	NP_000289.1:p.Leu542Pro
XM_006711386.4:c.1433T>C	XP_006711449.1:p.Leu478Pro
XM_011509640.3:c.1433T>C	XP_011507942.1:p.Leu478Pro
NM_181871.4:c.1532T>C	NP_870986.1:p.Leu511Pro