Canonical Allele Identifier: CA342748590

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290661-G-A
• MyVariant Identifiers: chr1:g.155260452G>A (hg19) ; chr1:g.155290661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290661G>A , CM000663.2:g.155290661G>A	GRCh38
NC_000001.10:g.155260452G>A , CM000663.1:g.155260452G>A	GRCh37
NC_000001.9:g.153527076G>A	NCBI36
NG_011677.1:g.15774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1636C>T MANE Select	ENSP00000339933.4:p.Leu546Phe
ENST00000342741.4:c.1636C>T	ENSP00000339933.4:p.Leu546Phe
ENST00000392414.7:c.1543C>T	ENSP00000376214.3:p.Leu515Phe
NM_000298.5:c.1636C>T	NP_000289.1:p.Leu546Phe
NM_181871.3:c.1543C>T	NP_870986.1:p.Leu515Phe
XM_005245266.3:c.1795C>T	XP_005245323.1:p.Leu599Phe
XM_006711386.2:c.1444C>T	XP_006711449.1:p.Leu482Phe
XM_011509640.1:c.1444C>T	XP_011507942.1:p.Leu482Phe
NM_000298.6:c.1636C>T MANE Select	NP_000289.1:p.Leu546Phe
XM_006711386.4:c.1444C>T	XP_006711449.1:p.Leu482Phe
XM_011509640.3:c.1444C>T	XP_011507942.1:p.Leu482Phe
NM_181871.4:c.1543C>T	NP_870986.1:p.Leu515Phe