Canonical Allele Identifier: CA372474744

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990623C>G (hg19) ; chr8:g.143916455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916455C>G , CM000670.2:g.143916455C>G	GRCh38
NC_000008.10:g.144990623C>G , CM000670.1:g.144990623C>G	GRCh37
NC_000008.9:g.145062611C>G	NCBI36
NG_012492.1:g.65291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13498G>C	ENSP00000437303.2:p.Glu4500Gln
ENST00000685198.1:c.13417G>C	ENSP00000510528.1:p.Glu4473Gln
ENST00000687971.1:c.13084G>C	ENSP00000510788.1:p.Glu4362Gln
ENST00000693060.1:c.13297G>C	ENSP00000510329.1:p.Glu4433Gln
ENST00000345136.8:c.13366G>C MANE Select	ENSP00000344848.3:p.Glu4456Gln
ENST00000527303.2:c.10066G>C	ENSP00000433982.2:p.Glu3356Gln
ENST00000322810.8:c.13777G>C	ENSP00000323856.4:p.Glu4593Gln
ENST00000345136.7:c.13366G>C	ENSP00000344848.3:p.Glu4456Gln
ENST00000354589.7:c.13366G>C	ENSP00000346602.3:p.Glu4456Gln
ENST00000354958.6:c.13300G>C	ENSP00000347044.2:p.Glu4434Gln
ENST00000356346.7:c.13324G>C MANE Plus Clinical	ENSP00000348702.3:p.Glu4442Gln
ENST00000357649.6:c.13378G>C	ENSP00000350277.2:p.Glu4460Gln
ENST00000398774.6:c.13270G>C	ENSP00000381756.2:p.Glu4424Gln
ENST00000436759.6:c.13447G>C	ENSP00000388180.2:p.Glu4483Gln
ENST00000527096.5:c.13435G>C	ENSP00000434583.1:p.Glu4479Gln
NM_000445.4:c.13447G>C	NP_000436.2:p.Glu4483Gln
NM_201378.3:c.13324G>C	NP_958780.1:p.Glu4442Gln
NM_201379.2:c.13300G>C	NP_958781.1:p.Glu4434Gln
NM_201380.3:c.13777G>C	NP_958782.1:p.Glu4593Gln
NM_201381.2:c.13270G>C	NP_958783.1:p.Glu4424Gln
NM_201382.3:c.13366G>C	NP_958784.1:p.Glu4456Gln
NM_201383.2:c.13378G>C	NP_958785.1:p.Glu4460Gln
NM_201384.2:c.13366G>C	NP_958786.1:p.Glu4456Gln
XM_005250976.2:c.13792G>C	XP_005251033.1:p.Glu4598Gln
XM_005250978.2:c.13393G>C	XP_005251035.1:p.Glu4465Gln
XM_005250979.3:c.13381G>C	XP_005251036.1:p.Glu4461Gln
XM_005250980.3:c.13381G>C	XP_005251037.1:p.Glu4461Gln
XM_005250981.2:c.13339G>C	XP_005251038.1:p.Glu4447Gln
XM_005250982.2:c.13315G>C	XP_005251039.1:p.Glu4439Gln
XM_005250983.2:c.13297G>C	XP_005251040.1:p.Glu4433Gln
XM_005250984.3:c.13285G>C	XP_005251041.1:p.Glu4429Gln
XM_006716588.2:c.13462G>C	XP_006716651.1:p.Glu4488Gln
XM_006716589.2:c.13312G>C	XP_006716652.1:p.Glu4438Gln
XM_006716590.2:c.13312G>C	XP_006716653.1:p.Glu4438Gln
XM_011517130.1:c.13381G>C	XP_011515432.1:p.Glu4461Gln
XM_011517131.1:c.13297G>C	XP_011515433.1:p.Glu4433Gln
XM_011517132.1:c.10012G>C	XP_011515434.1:p.Glu3338Gln
XM_005250976.4:c.13792G>C	XP_005251033.1:p.Glu4598Gln
XM_005250978.3:c.13393G>C	XP_005251035.1:p.Glu4465Gln
XM_005250979.4:c.13381G>C	XP_005251036.1:p.Glu4461Gln
XM_005250980.4:c.13381G>C	XP_005251037.1:p.Glu4461Gln
XM_005250981.3:c.13339G>C	XP_005251038.1:p.Glu4447Gln
XM_005250982.4:c.13315G>C	XP_005251039.1:p.Glu4439Gln
XM_005250984.5:c.13285G>C	XP_005251041.1:p.Glu4429Gln
XM_006716588.3:c.13462G>C	XP_006716651.1:p.Glu4488Gln
XM_006716590.3:c.13312G>C	XP_006716653.1:p.Glu4438Gln
XM_011517130.2:c.13381G>C	XP_011515432.1:p.Glu4461Gln
XM_011517131.2:c.13297G>C	XP_011515433.1:p.Glu4433Gln
XM_011517132.2:c.10012G>C	XP_011515434.1:p.Glu3338Gln
NM_000445.5:c.13447G>C	NP_000436.2:p.Glu4483Gln
NM_201378.4:c.13324G>C MANE Plus Clinical	NP_958780.1:p.Glu4442Gln
NM_201379.3:c.13300G>C	NP_958781.1:p.Glu4434Gln
NM_201380.4:c.13777G>C	NP_958782.1:p.Glu4593Gln
NM_201381.3:c.13270G>C	NP_958783.1:p.Glu4424Gln
NM_201382.4:c.13366G>C	NP_958784.1:p.Glu4456Gln
NM_201383.3:c.13378G>C	NP_958785.1:p.Glu4460Gln
NM_201384.3:c.13366G>C MANE Select	NP_958786.1:p.Glu4456Gln