Canonical Allele Identifier: CA421019434

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155260432C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290641C>G , CM000663.2:g.155290641C>G	GRCh38
NC_000001.10:g.155260432C>G , CM000663.1:g.155260432C>G	GRCh37
NC_000001.9:g.153527056C>G	NCBI36
NG_011677.1:g.15794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1656G>C MANE Select	ENSP00000339933.4:p.Val552=
ENST00000342741.4:c.1656G>C	ENSP00000339933.4:p.Val552=
ENST00000392414.7:c.1563G>C	ENSP00000376214.3:p.Val521=
NM_000298.5:c.1656G>C	NP_000289.1:p.Val552=
NM_181871.3:c.1563G>C	NP_870986.1:p.Val521=
XM_005245266.3:c.1815G>C	XP_005245323.1:p.Val605=
XM_006711386.2:c.1464G>C	XP_006711449.1:p.Val488=
XM_011509640.1:c.1464G>C	XP_011507942.1:p.Val488=
NM_000298.6:c.1656G>C MANE Select	NP_000289.1:p.Val552=
XM_006711386.4:c.1464G>C	XP_006711449.1:p.Val488=
XM_011509640.3:c.1464G>C	XP_011507942.1:p.Val488=
NM_181871.4:c.1563G>C	NP_870986.1:p.Val521=