Canonical Allele Identifier: CA244631
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 196859
dbSNP Id: rs200231367

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143920668G>A , CM000670.2:g.143920668G>A GRCh38
NC_000008.10:g.144994836G>A , CM000670.1:g.144994836G>A GRCh37
NC_000008.9:g.145066824G>A NCBI36
NG_012492.1:g.61078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.9285C>T ENSP00000437303.2:p.Ser3095=
ENST00000685198.1:c.9204C>T ENSP00000510528.1:p.Ser3068=
ENST00000687971.1:c.8871C>T ENSP00000510788.1:p.Ser2957=
ENST00000693060.1:c.9084C>T ENSP00000510329.1:p.Ser3028=
ENST00000345136.8:c.9153C>T MANE Select ENSP00000344848.3:p.Ser3051=
ENST00000527303.2:c.5853C>T ENSP00000433982.2:p.Ser1951=
ENST00000322810.8:c.9564C>T ENSP00000323856.4:p.Ser3188=
ENST00000345136.7:c.9153C>T ENSP00000344848.3:p.Ser3051=
ENST00000354589.7:c.9153C>T ENSP00000346602.3:p.Ser3051=
ENST00000354958.6:c.9087C>T ENSP00000347044.2:p.Ser3029=
ENST00000356346.7:c.9111C>T MANE Plus Clinical ENSP00000348702.3:p.Ser3037=
ENST00000357649.6:c.9165C>T ENSP00000350277.2:p.Ser3055=
ENST00000398774.6:c.9057C>T ENSP00000381756.2:p.Ser3019=
ENST00000436759.6:c.9234C>T ENSP00000388180.2:p.Ser3078=
ENST00000527096.5:c.9222C>T ENSP00000434583.1:p.Ser3074=
NM_000445.4:c.9234C>T NP_000436.2:p.Ser3078=
NM_201378.3:c.9111C>T NP_958780.1:p.Ser3037=
NM_201379.2:c.9087C>T NP_958781.1:p.Ser3029=
NM_201380.3:c.9564C>T NP_958782.1:p.Ser3188=
NM_201381.2:c.9057C>T NP_958783.1:p.Ser3019=
NM_201382.3:c.9153C>T NP_958784.1:p.Ser3051=
NM_201383.2:c.9165C>T NP_958785.1:p.Ser3055=
NM_201384.2:c.9153C>T NP_958786.1:p.Ser3051=
XM_005250976.2:c.9579C>T XP_005251033.1:p.Ser3193=
XM_005250978.2:c.9180C>T XP_005251035.1:p.Ser3060=
XM_005250979.3:c.9168C>T XP_005251036.1:p.Ser3056=
XM_005250980.3:c.9168C>T XP_005251037.1:p.Ser3056=
XM_005250981.2:c.9126C>T XP_005251038.1:p.Ser3042=
XM_005250982.2:c.9102C>T XP_005251039.1:p.Ser3034=
XM_005250983.2:c.9084C>T XP_005251040.1:p.Ser3028=
XM_005250984.3:c.9072C>T XP_005251041.1:p.Ser3024=
XM_006716588.2:c.9249C>T XP_006716651.1:p.Ser3083=
XM_006716589.2:c.9099C>T XP_006716652.1:p.Ser3033=
XM_006716590.2:c.9099C>T XP_006716653.1:p.Ser3033=
XM_011517130.1:c.9168C>T XP_011515432.1:p.Ser3056=
XM_011517131.1:c.9084C>T XP_011515433.1:p.Ser3028=
XM_011517132.1:c.5799C>T XP_011515434.1:p.Ser1933=
XM_005250976.4:c.9579C>T XP_005251033.1:p.Ser3193=
XM_005250978.3:c.9180C>T XP_005251035.1:p.Ser3060=
XM_005250979.4:c.9168C>T XP_005251036.1:p.Ser3056=
XM_005250980.4:c.9168C>T XP_005251037.1:p.Ser3056=
XM_005250981.3:c.9126C>T XP_005251038.1:p.Ser3042=
XM_005250982.4:c.9102C>T XP_005251039.1:p.Ser3034=
XM_005250984.5:c.9072C>T XP_005251041.1:p.Ser3024=
XM_006716588.3:c.9249C>T XP_006716651.1:p.Ser3083=
XM_006716590.3:c.9099C>T XP_006716653.1:p.Ser3033=
XM_011517130.2:c.9168C>T XP_011515432.1:p.Ser3056=
XM_011517131.2:c.9084C>T XP_011515433.1:p.Ser3028=
XM_011517132.2:c.5799C>T XP_011515434.1:p.Ser1933=
NM_000445.5:c.9234C>T NP_000436.2:p.Ser3078=
NM_201378.4:c.9111C>T MANE Plus Clinical NP_958780.1:p.Ser3037=
NM_201379.3:c.9087C>T NP_958781.1:p.Ser3029=
NM_201380.4:c.9564C>T NP_958782.1:p.Ser3188=
NM_201381.3:c.9057C>T NP_958783.1:p.Ser3019=
NM_201382.4:c.9153C>T NP_958784.1:p.Ser3051=
NM_201383.3:c.9165C>T NP_958785.1:p.Ser3055=
NM_201384.3:c.9153C>T MANE Select NP_958786.1:p.Ser3051=