Canonical Allele Identifier: CA342758341

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155300157A>G , CM000663.2:g.155300157A>G	GRCh38
NC_000001.10:g.155269948A>G , CM000663.1:g.155269948A>G	GRCh37
NC_000001.9:g.153536572A>G	NCBI36
NG_011677.1:g.6278T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.224T>C MANE Select	NP_000289.1:p.Leu75Pro
ENST00000342741.6:c.224T>C MANE Select	ENSP00000339933.4:p.Leu75Pro
NM_000298.5:c.224T>C	NP_000289.1:p.Leu75Pro
NM_181871.3:c.131T>C	NP_870986.1:p.Leu44Pro
NM_181871.4:c.131T>C	NP_870986.1:p.Leu44Pro
ENST00000342741.4:c.224T>C	ENSP00000339933.4:p.Leu75Pro
ENST00000392414.7:c.131T>C	ENSP00000376214.3:p.Leu44Pro
ENST00000434082.2:c.129T>C	ENSP00000398037.2:p.Pro43=
ENST00000434082.3:c.32T>C	ENSP00000398037.3:p.Leu11Pro
XM_005245266.3:c.383T>C	XP_005245323.1:p.Leu128Pro
XM_006711386.2:c.32T>C	XP_006711449.1:p.Leu11Pro
XM_006711386.4:c.32T>C	XP_006711449.1:p.Leu11Pro
XM_011509639.1:c.383T>C	XP_011507941.1:p.Leu128Pro
XM_011509640.1:c.32T>C	XP_011507942.1:p.Leu11Pro
XM_011509640.3:c.32T>C	XP_011507942.1:p.Leu11Pro
XM_017001493.1:c.224T>C	XP_016856982.1:p.Leu75Pro