Canonical Allele Identifier: CA342751114

Gene: PKLR

Linked Data

• gnomAD v4: 1-155291861-G-C
• MyVariant Identifiers: chr1:g.155261652G>C (hg19) ; chr1:g.155291861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291861G>C , CM000663.2:g.155291861G>C	GRCh38
NC_000001.10:g.155261652G>C , CM000663.1:g.155261652G>C	GRCh37
NC_000001.9:g.153528276G>C	NCBI36
NG_011677.1:g.14574C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1513C>G MANE Select	ENSP00000339933.4:p.Gln505Glu
ENST00000342741.4:c.1513C>G	ENSP00000339933.4:p.Gln505Glu
ENST00000392414.7:c.1420C>G	ENSP00000376214.3:p.Gln474Glu
NM_000298.5:c.1513C>G	NP_000289.1:p.Gln505Glu
NM_181871.3:c.1420C>G	NP_870986.1:p.Gln474Glu
XM_005245266.3:c.1672C>G	XP_005245323.1:p.Gln558Glu
XM_006711386.2:c.1321C>G	XP_006711449.1:p.Gln441Glu
XM_011509640.1:c.1321C>G	XP_011507942.1:p.Gln441Glu
NM_000298.6:c.1513C>G MANE Select	NP_000289.1:p.Gln505Glu
XM_006711386.4:c.1321C>G	XP_006711449.1:p.Gln441Glu
XM_011509640.3:c.1321C>G	XP_011507942.1:p.Gln441Glu
NM_181871.4:c.1420C>G	NP_870986.1:p.Gln474Glu