Canonical Allele Identifier: CA372542537

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143924240G>A , CM000670.2:g.143924240G>A	GRCh38
NC_000008.10:g.144998408G>A , CM000670.1:g.144998408G>A	GRCh37
NC_000008.9:g.145070396G>A	NCBI36
NG_012492.1:g.57506C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_201384.3:c.5689C>T MANE Select	NP_958786.1:p.Gln1897Ter
ENST00000345136.8:c.5689C>T MANE Select	ENSP00000344848.3:p.Gln1897Ter
NM_201378.4:c.5647C>T MANE Plus Clinical	NP_958780.1:p.Gln1883Ter
ENST00000356346.7:c.5647C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln1883Ter
NM_000445.4:c.5770C>T	NP_000436.2:p.Gln1924Ter
NM_000445.5:c.5770C>T	NP_000436.2:p.Gln1924Ter
NM_201378.3:c.5647C>T	NP_958780.1:p.Gln1883Ter
NM_201379.2:c.5623C>T	NP_958781.1:p.Gln1875Ter
NM_201379.3:c.5623C>T	NP_958781.1:p.Gln1875Ter
NM_201380.3:c.6100C>T	NP_958782.1:p.Gln2034Ter
NM_201380.4:c.6100C>T	NP_958782.1:p.Gln2034Ter
NM_201381.2:c.5593C>T	NP_958783.1:p.Gln1865Ter
NM_201381.3:c.5593C>T	NP_958783.1:p.Gln1865Ter
NM_201382.3:c.5689C>T	NP_958784.1:p.Gln1897Ter
NM_201382.4:c.5689C>T	NP_958784.1:p.Gln1897Ter
NM_201383.2:c.5701C>T	NP_958785.1:p.Gln1901Ter
NM_201383.3:c.5701C>T	NP_958785.1:p.Gln1901Ter
NM_201384.2:c.5689C>T	NP_958786.1:p.Gln1897Ter
ENST00000322810.8:c.6100C>T	ENSP00000323856.4:p.Gln2034Ter
ENST00000345136.7:c.5689C>T	ENSP00000344848.3:p.Gln1897Ter
ENST00000354589.7:c.5689C>T	ENSP00000346602.3:p.Gln1897Ter
ENST00000354958.6:c.5623C>T	ENSP00000347044.2:p.Gln1875Ter
ENST00000357649.6:c.5701C>T	ENSP00000350277.2:p.Gln1901Ter
ENST00000398774.6:c.5593C>T	ENSP00000381756.2:p.Gln1865Ter
ENST00000436759.6:c.5770C>T	ENSP00000388180.2:p.Gln1924Ter
ENST00000527096.5:c.5758C>T	ENSP00000434583.1:p.Gln1920Ter
ENST00000527303.1:c.135-1845C>T
ENST00000527303.2:c.4126-1845C>T	ENSP00000433982.2:n.4126-1845C>T
ENST00000528025.6:c.5821C>T	ENSP00000437303.2:p.Gln1941Ter
ENST00000685198.1:c.5740C>T	ENSP00000510528.1:p.Gln1914Ter
ENST00000687971.1:c.5407C>T	ENSP00000510788.1:p.Gln1803Ter
ENST00000693060.1:c.5620C>T	ENSP00000510329.1:p.Gln1874Ter
XM_005250976.2:c.6115C>T	XP_005251033.1:p.Gln2039Ter
XM_005250976.4:c.6115C>T	XP_005251033.1:p.Gln2039Ter
XM_005250978.2:c.5716C>T	XP_005251035.1:p.Gln1906Ter
XM_005250978.3:c.5716C>T	XP_005251035.1:p.Gln1906Ter
XM_005250979.3:c.5704C>T	XP_005251036.1:p.Gln1902Ter
XM_005250979.4:c.5704C>T	XP_005251036.1:p.Gln1902Ter
XM_005250980.3:c.5704C>T	XP_005251037.1:p.Gln1902Ter
XM_005250980.4:c.5704C>T	XP_005251037.1:p.Gln1902Ter
XM_005250981.2:c.5662C>T	XP_005251038.1:p.Gln1888Ter
XM_005250981.3:c.5662C>T	XP_005251038.1:p.Gln1888Ter
XM_005250982.2:c.5638C>T	XP_005251039.1:p.Gln1880Ter
XM_005250982.4:c.5638C>T	XP_005251039.1:p.Gln1880Ter
XM_005250983.2:c.5620C>T	XP_005251040.1:p.Gln1874Ter
XM_005250984.3:c.5608C>T	XP_005251041.1:p.Gln1870Ter
XM_005250984.5:c.5608C>T	XP_005251041.1:p.Gln1870Ter
XM_006716588.2:c.5785C>T	XP_006716651.1:p.Gln1929Ter
XM_006716588.3:c.5785C>T	XP_006716651.1:p.Gln1929Ter
XM_006716589.2:c.5635C>T	XP_006716652.1:p.Gln1879Ter
XM_006716590.2:c.5635C>T	XP_006716653.1:p.Gln1879Ter
XM_006716590.3:c.5635C>T	XP_006716653.1:p.Gln1879Ter
XM_011517130.1:c.5704C>T	XP_011515432.1:p.Gln1902Ter
XM_011517130.2:c.5704C>T	XP_011515432.1:p.Gln1902Ter
XM_011517131.1:c.5620C>T	XP_011515433.1:p.Gln1874Ter
XM_011517131.2:c.5620C>T	XP_011515433.1:p.Gln1874Ter
XM_011517132.1:c.4072-1845C>T	XP_011515434.1:n.4072-1845C>T
XM_011517132.2:c.4072-1845C>T	XP_011515434.1:n.4072-1845C>T