Canonical Allele Identifier: CA372474533

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990569A>G (hg19) ; chr8:g.143916401A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916401A>G , CM000670.2:g.143916401A>G	GRCh38
NC_000008.10:g.144990569A>G , CM000670.1:g.144990569A>G	GRCh37
NC_000008.9:g.145062557A>G	NCBI36
NG_012492.1:g.65345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13552T>C	ENSP00000437303.2:p.Tyr4518His
ENST00000685198.1:c.13471T>C	ENSP00000510528.1:p.Tyr4491His
ENST00000687971.1:c.13138T>C	ENSP00000510788.1:p.Tyr4380His
ENST00000693060.1:c.13351T>C	ENSP00000510329.1:p.Tyr4451His
ENST00000345136.8:c.13420T>C MANE Select	ENSP00000344848.3:p.Tyr4474His
ENST00000527303.2:c.10120T>C	ENSP00000433982.2:p.Tyr3374His
ENST00000322810.8:c.13831T>C	ENSP00000323856.4:p.Tyr4611His
ENST00000345136.7:c.13420T>C	ENSP00000344848.3:p.Tyr4474His
ENST00000354589.7:c.13420T>C	ENSP00000346602.3:p.Tyr4474His
ENST00000354958.6:c.13354T>C	ENSP00000347044.2:p.Tyr4452His
ENST00000356346.7:c.13378T>C MANE Plus Clinical	ENSP00000348702.3:p.Tyr4460His
ENST00000357649.6:c.13432T>C	ENSP00000350277.2:p.Tyr4478His
ENST00000398774.6:c.13324T>C	ENSP00000381756.2:p.Tyr4442His
ENST00000436759.6:c.13501T>C	ENSP00000388180.2:p.Tyr4501His
ENST00000527096.5:c.13489T>C	ENSP00000434583.1:p.Tyr4497His
NM_000445.4:c.13501T>C	NP_000436.2:p.Tyr4501His
NM_201378.3:c.13378T>C	NP_958780.1:p.Tyr4460His
NM_201379.2:c.13354T>C	NP_958781.1:p.Tyr4452His
NM_201380.3:c.13831T>C	NP_958782.1:p.Tyr4611His
NM_201381.2:c.13324T>C	NP_958783.1:p.Tyr4442His
NM_201382.3:c.13420T>C	NP_958784.1:p.Tyr4474His
NM_201383.2:c.13432T>C	NP_958785.1:p.Tyr4478His
NM_201384.2:c.13420T>C	NP_958786.1:p.Tyr4474His
XM_005250976.2:c.13846T>C	XP_005251033.1:p.Tyr4616His
XM_005250978.2:c.13447T>C	XP_005251035.1:p.Tyr4483His
XM_005250979.3:c.13435T>C	XP_005251036.1:p.Tyr4479His
XM_005250980.3:c.13435T>C	XP_005251037.1:p.Tyr4479His
XM_005250981.2:c.13393T>C	XP_005251038.1:p.Tyr4465His
XM_005250982.2:c.13369T>C	XP_005251039.1:p.Tyr4457His
XM_005250983.2:c.13351T>C	XP_005251040.1:p.Tyr4451His
XM_005250984.3:c.13339T>C	XP_005251041.1:p.Tyr4447His
XM_006716588.2:c.13516T>C	XP_006716651.1:p.Tyr4506His
XM_006716589.2:c.13366T>C	XP_006716652.1:p.Tyr4456His
XM_006716590.2:c.13366T>C	XP_006716653.1:p.Tyr4456His
XM_011517130.1:c.13435T>C	XP_011515432.1:p.Tyr4479His
XM_011517131.1:c.13351T>C	XP_011515433.1:p.Tyr4451His
XM_011517132.1:c.10066T>C	XP_011515434.1:p.Tyr3356His
XM_005250976.4:c.13846T>C	XP_005251033.1:p.Tyr4616His
XM_005250978.3:c.13447T>C	XP_005251035.1:p.Tyr4483His
XM_005250979.4:c.13435T>C	XP_005251036.1:p.Tyr4479His
XM_005250980.4:c.13435T>C	XP_005251037.1:p.Tyr4479His
XM_005250981.3:c.13393T>C	XP_005251038.1:p.Tyr4465His
XM_005250982.4:c.13369T>C	XP_005251039.1:p.Tyr4457His
XM_005250984.5:c.13339T>C	XP_005251041.1:p.Tyr4447His
XM_006716588.3:c.13516T>C	XP_006716651.1:p.Tyr4506His
XM_006716590.3:c.13366T>C	XP_006716653.1:p.Tyr4456His
XM_011517130.2:c.13435T>C	XP_011515432.1:p.Tyr4479His
XM_011517131.2:c.13351T>C	XP_011515433.1:p.Tyr4451His
XM_011517132.2:c.10066T>C	XP_011515434.1:p.Tyr3356His
NM_000445.5:c.13501T>C	NP_000436.2:p.Tyr4501His
NM_201378.4:c.13378T>C MANE Plus Clinical	NP_958780.1:p.Tyr4460His
NM_201379.3:c.13354T>C	NP_958781.1:p.Tyr4452His
NM_201380.4:c.13831T>C	NP_958782.1:p.Tyr4611His
NM_201381.3:c.13324T>C	NP_958783.1:p.Tyr4442His
NM_201382.4:c.13420T>C	NP_958784.1:p.Tyr4474His
NM_201383.3:c.13432T>C	NP_958785.1:p.Tyr4478His
NM_201384.3:c.13420T>C MANE Select	NP_958786.1:p.Tyr4474His