Canonical Allele Identifier: CA421020201

Gene: PKLR

Linked Data

• dbSNP Id: rs1647240305
• gnomAD v4: 1-155291886-G-A
• MyVariant Identifiers: chr1:g.155261677G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291886G>A , CM000663.2:g.155291886G>A	GRCh38
NC_000001.10:g.155261677G>A , CM000663.1:g.155261677G>A	GRCh37
NC_000001.9:g.153528301G>A	NCBI36
NG_011677.1:g.14549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1488C>T MANE Select	ENSP00000339933.4:p.Val496=
ENST00000342741.4:c.1488C>T	ENSP00000339933.4:p.Val496=
ENST00000392414.7:c.1395C>T	ENSP00000376214.3:p.Val465=
NM_000298.5:c.1488C>T	NP_000289.1:p.Val496=
NM_181871.3:c.1395C>T	NP_870986.1:p.Val465=
XM_005245266.3:c.1647C>T	XP_005245323.1:p.Val549=
XM_006711386.2:c.1296C>T	XP_006711449.1:p.Val432=
XM_011509640.1:c.1296C>T	XP_011507942.1:p.Val432=
NM_000298.6:c.1488C>T MANE Select	NP_000289.1:p.Val496=
XM_006711386.4:c.1296C>T	XP_006711449.1:p.Val432=
XM_011509640.3:c.1296C>T	XP_011507942.1:p.Val432=
NM_181871.4:c.1395C>T	NP_870986.1:p.Val465=