Canonical Allele Identifier: CA342751308

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155261694C>G (hg19) ; chr1:g.155291903C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291903C>G , CM000663.2:g.155291903C>G	GRCh38
NC_000001.10:g.155261694C>G , CM000663.1:g.155261694C>G	GRCh37
NC_000001.9:g.153528318C>G	NCBI36
NG_011677.1:g.14532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1471G>C MANE Select	ENSP00000339933.4:p.Ala491Pro
ENST00000342741.4:c.1471G>C	ENSP00000339933.4:p.Ala491Pro
ENST00000392414.7:c.1378G>C	ENSP00000376214.3:p.Ala460Pro
NM_000298.5:c.1471G>C	NP_000289.1:p.Ala491Pro
NM_181871.3:c.1378G>C	NP_870986.1:p.Ala460Pro
XM_005245266.3:c.1630G>C	XP_005245323.1:p.Ala544Pro
XM_006711386.2:c.1279G>C	XP_006711449.1:p.Ala427Pro
XM_011509640.1:c.1279G>C	XP_011507942.1:p.Ala427Pro
NM_000298.6:c.1471G>C MANE Select	NP_000289.1:p.Ala491Pro
XM_006711386.4:c.1279G>C	XP_006711449.1:p.Ala427Pro
XM_011509640.3:c.1279G>C	XP_011507942.1:p.Ala427Pro
NM_181871.4:c.1378G>C	NP_870986.1:p.Ala460Pro