Canonical Allele Identifier: CA421020244

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155261713C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291922C>A , CM000663.2:g.155291922C>A	GRCh38
NC_000001.10:g.155261713C>A , CM000663.1:g.155261713C>A	GRCh37
NC_000001.9:g.153528337C>A	NCBI36
NG_011677.1:g.14513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1452G>T MANE Select	ENSP00000339933.4:p.Leu484=
ENST00000342741.4:c.1452G>T	ENSP00000339933.4:p.Leu484=
ENST00000392414.7:c.1359G>T	ENSP00000376214.3:p.Leu453=
NM_000298.5:c.1452G>T	NP_000289.1:p.Leu484=
NM_181871.3:c.1359G>T	NP_870986.1:p.Leu453=
XM_005245266.3:c.1611G>T	XP_005245323.1:p.Leu537=
XM_006711386.2:c.1260G>T	XP_006711449.1:p.Leu420=
XM_011509640.1:c.1260G>T	XP_011507942.1:p.Leu420=
NM_000298.6:c.1452G>T MANE Select	NP_000289.1:p.Leu484=
XM_006711386.4:c.1260G>T	XP_006711449.1:p.Leu420=
XM_011509640.3:c.1260G>T	XP_011507942.1:p.Leu420=
NM_181871.4:c.1359G>T	NP_870986.1:p.Leu453=