Canonical Allele Identifier: CA372476206

Gene: PLEC

Linked Data

• dbSNP Id: rs1554669843
• gnomAD v2: 8-144990821-C-T
• gnomAD v4: 8-143916653-C-T
• MyVariant Identifiers: chr8:g.144990821C>T (hg19) ; chr8:g.143916653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916653C>T , CM000670.2:g.143916653C>T	GRCh38
NC_000008.10:g.144990821C>T , CM000670.1:g.144990821C>T	GRCh37
NC_000008.9:g.145062809C>T	NCBI36
NG_012492.1:g.65093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13300G>A	ENSP00000437303.2:p.Val4434Met
ENST00000685198.1:c.13219G>A	ENSP00000510528.1:p.Val4407Met
ENST00000687971.1:c.12886G>A	ENSP00000510788.1:p.Val4296Met
ENST00000693060.1:c.13099G>A	ENSP00000510329.1:p.Val4367Met
ENST00000345136.8:c.13168G>A MANE Select	ENSP00000344848.3:p.Val4390Met
ENST00000527303.2:c.9868G>A	ENSP00000433982.2:p.Val3290Met
ENST00000322810.8:c.13579G>A	ENSP00000323856.4:p.Val4527Met
ENST00000345136.7:c.13168G>A	ENSP00000344848.3:p.Val4390Met
ENST00000354589.7:c.13168G>A	ENSP00000346602.3:p.Val4390Met
ENST00000354958.6:c.13102G>A	ENSP00000347044.2:p.Val4368Met
ENST00000356346.7:c.13126G>A MANE Plus Clinical	ENSP00000348702.3:p.Val4376Met
ENST00000357649.6:c.13180G>A	ENSP00000350277.2:p.Val4394Met
ENST00000398774.6:c.13072G>A	ENSP00000381756.2:p.Val4358Met
ENST00000436759.6:c.13249G>A	ENSP00000388180.2:p.Val4417Met
ENST00000527096.5:c.13237G>A	ENSP00000434583.1:p.Val4413Met
NM_000445.4:c.13249G>A	NP_000436.2:p.Val4417Met
NM_201378.3:c.13126G>A	NP_958780.1:p.Val4376Met
NM_201379.2:c.13102G>A	NP_958781.1:p.Val4368Met
NM_201380.3:c.13579G>A	NP_958782.1:p.Val4527Met
NM_201381.2:c.13072G>A	NP_958783.1:p.Val4358Met
NM_201382.3:c.13168G>A	NP_958784.1:p.Val4390Met
NM_201383.2:c.13180G>A	NP_958785.1:p.Val4394Met
NM_201384.2:c.13168G>A	NP_958786.1:p.Val4390Met
XM_005250976.2:c.13594G>A	XP_005251033.1:p.Val4532Met
XM_005250978.2:c.13195G>A	XP_005251035.1:p.Val4399Met
XM_005250979.3:c.13183G>A	XP_005251036.1:p.Val4395Met
XM_005250980.3:c.13183G>A	XP_005251037.1:p.Val4395Met
XM_005250981.2:c.13141G>A	XP_005251038.1:p.Val4381Met
XM_005250982.2:c.13117G>A	XP_005251039.1:p.Val4373Met
XM_005250983.2:c.13099G>A	XP_005251040.1:p.Val4367Met
XM_005250984.3:c.13087G>A	XP_005251041.1:p.Val4363Met
XM_006716588.2:c.13264G>A	XP_006716651.1:p.Val4422Met
XM_006716589.2:c.13114G>A	XP_006716652.1:p.Val4372Met
XM_006716590.2:c.13114G>A	XP_006716653.1:p.Val4372Met
XM_011517130.1:c.13183G>A	XP_011515432.1:p.Val4395Met
XM_011517131.1:c.13099G>A	XP_011515433.1:p.Val4367Met
XM_011517132.1:c.9814G>A	XP_011515434.1:p.Val3272Met
XM_005250976.4:c.13594G>A	XP_005251033.1:p.Val4532Met
XM_005250978.3:c.13195G>A	XP_005251035.1:p.Val4399Met
XM_005250979.4:c.13183G>A	XP_005251036.1:p.Val4395Met
XM_005250980.4:c.13183G>A	XP_005251037.1:p.Val4395Met
XM_005250981.3:c.13141G>A	XP_005251038.1:p.Val4381Met
XM_005250982.4:c.13117G>A	XP_005251039.1:p.Val4373Met
XM_005250984.5:c.13087G>A	XP_005251041.1:p.Val4363Met
XM_006716588.3:c.13264G>A	XP_006716651.1:p.Val4422Met
XM_006716590.3:c.13114G>A	XP_006716653.1:p.Val4372Met
XM_011517130.2:c.13183G>A	XP_011515432.1:p.Val4395Met
XM_011517131.2:c.13099G>A	XP_011515433.1:p.Val4367Met
XM_011517132.2:c.9814G>A	XP_011515434.1:p.Val3272Met
NM_000445.5:c.13249G>A	NP_000436.2:p.Val4417Met
NM_201378.4:c.13126G>A MANE Plus Clinical	NP_958780.1:p.Val4376Met
NM_201379.3:c.13102G>A	NP_958781.1:p.Val4368Met
NM_201380.4:c.13579G>A	NP_958782.1:p.Val4527Met
NM_201381.3:c.13072G>A	NP_958783.1:p.Val4358Met
NM_201382.4:c.13168G>A	NP_958784.1:p.Val4390Met
NM_201383.3:c.13180G>A	NP_958785.1:p.Val4394Met
NM_201384.3:c.13168G>A MANE Select	NP_958786.1:p.Val4390Met