Canonical Allele Identifier: CA372475630

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990658A>G (hg19) ; chr8:g.143916490A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916490A>G , CM000670.2:g.143916490A>G	GRCh38
NC_000008.10:g.144990658A>G , CM000670.1:g.144990658A>G	GRCh37
NC_000008.9:g.145062646A>G	NCBI36
NG_012492.1:g.65256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13463T>C	ENSP00000437303.2:p.Ile4488Thr
ENST00000685198.1:c.13382T>C	ENSP00000510528.1:p.Ile4461Thr
ENST00000687971.1:c.13049T>C	ENSP00000510788.1:p.Ile4350Thr
ENST00000693060.1:c.13262T>C	ENSP00000510329.1:p.Ile4421Thr
ENST00000345136.8:c.13331T>C MANE Select	ENSP00000344848.3:p.Ile4444Thr
ENST00000527303.2:c.10031T>C	ENSP00000433982.2:p.Ile3344Thr
ENST00000322810.8:c.13742T>C	ENSP00000323856.4:p.Ile4581Thr
ENST00000345136.7:c.13331T>C	ENSP00000344848.3:p.Ile4444Thr
ENST00000354589.7:c.13331T>C	ENSP00000346602.3:p.Ile4444Thr
ENST00000354958.6:c.13265T>C	ENSP00000347044.2:p.Ile4422Thr
ENST00000356346.7:c.13289T>C MANE Plus Clinical	ENSP00000348702.3:p.Ile4430Thr
ENST00000357649.6:c.13343T>C	ENSP00000350277.2:p.Ile4448Thr
ENST00000398774.6:c.13235T>C	ENSP00000381756.2:p.Ile4412Thr
ENST00000436759.6:c.13412T>C	ENSP00000388180.2:p.Ile4471Thr
ENST00000527096.5:c.13400T>C	ENSP00000434583.1:p.Ile4467Thr
NM_000445.4:c.13412T>C	NP_000436.2:p.Ile4471Thr
NM_201378.3:c.13289T>C	NP_958780.1:p.Ile4430Thr
NM_201379.2:c.13265T>C	NP_958781.1:p.Ile4422Thr
NM_201380.3:c.13742T>C	NP_958782.1:p.Ile4581Thr
NM_201381.2:c.13235T>C	NP_958783.1:p.Ile4412Thr
NM_201382.3:c.13331T>C	NP_958784.1:p.Ile4444Thr
NM_201383.2:c.13343T>C	NP_958785.1:p.Ile4448Thr
NM_201384.2:c.13331T>C	NP_958786.1:p.Ile4444Thr
XM_005250976.2:c.13757T>C	XP_005251033.1:p.Ile4586Thr
XM_005250978.2:c.13358T>C	XP_005251035.1:p.Ile4453Thr
XM_005250979.3:c.13346T>C	XP_005251036.1:p.Ile4449Thr
XM_005250980.3:c.13346T>C	XP_005251037.1:p.Ile4449Thr
XM_005250981.2:c.13304T>C	XP_005251038.1:p.Ile4435Thr
XM_005250982.2:c.13280T>C	XP_005251039.1:p.Ile4427Thr
XM_005250983.2:c.13262T>C	XP_005251040.1:p.Ile4421Thr
XM_005250984.3:c.13250T>C	XP_005251041.1:p.Ile4417Thr
XM_006716588.2:c.13427T>C	XP_006716651.1:p.Ile4476Thr
XM_006716589.2:c.13277T>C	XP_006716652.1:p.Ile4426Thr
XM_006716590.2:c.13277T>C	XP_006716653.1:p.Ile4426Thr
XM_011517130.1:c.13346T>C	XP_011515432.1:p.Ile4449Thr
XM_011517131.1:c.13262T>C	XP_011515433.1:p.Ile4421Thr
XM_011517132.1:c.9977T>C	XP_011515434.1:p.Ile3326Thr
XM_005250976.4:c.13757T>C	XP_005251033.1:p.Ile4586Thr
XM_005250978.3:c.13358T>C	XP_005251035.1:p.Ile4453Thr
XM_005250979.4:c.13346T>C	XP_005251036.1:p.Ile4449Thr
XM_005250980.4:c.13346T>C	XP_005251037.1:p.Ile4449Thr
XM_005250981.3:c.13304T>C	XP_005251038.1:p.Ile4435Thr
XM_005250982.4:c.13280T>C	XP_005251039.1:p.Ile4427Thr
XM_005250984.5:c.13250T>C	XP_005251041.1:p.Ile4417Thr
XM_006716588.3:c.13427T>C	XP_006716651.1:p.Ile4476Thr
XM_006716590.3:c.13277T>C	XP_006716653.1:p.Ile4426Thr
XM_011517130.2:c.13346T>C	XP_011515432.1:p.Ile4449Thr
XM_011517131.2:c.13262T>C	XP_011515433.1:p.Ile4421Thr
XM_011517132.2:c.9977T>C	XP_011515434.1:p.Ile3326Thr
NM_000445.5:c.13412T>C	NP_000436.2:p.Ile4471Thr
NM_201378.4:c.13289T>C MANE Plus Clinical	NP_958780.1:p.Ile4430Thr
NM_201379.3:c.13265T>C	NP_958781.1:p.Ile4422Thr
NM_201380.4:c.13742T>C	NP_958782.1:p.Ile4581Thr
NM_201381.3:c.13235T>C	NP_958783.1:p.Ile4412Thr
NM_201382.4:c.13331T>C	NP_958784.1:p.Ile4444Thr
NM_201383.3:c.13343T>C	NP_958785.1:p.Ile4448Thr
NM_201384.3:c.13331T>C MANE Select	NP_958786.1:p.Ile4444Thr