Canonical Allele Identifier: CA372475612

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.144990650T>G (hg19) ; chr8:g.143916482T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916482T>G , CM000670.2:g.143916482T>G	GRCh38
NC_000008.10:g.144990650T>G , CM000670.1:g.144990650T>G	GRCh37
NC_000008.9:g.145062638T>G	NCBI36
NG_012492.1:g.65264A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13471A>C	ENSP00000437303.2:p.Lys4491Gln
ENST00000685198.1:c.13390A>C	ENSP00000510528.1:p.Lys4464Gln
ENST00000687971.1:c.13057A>C	ENSP00000510788.1:p.Lys4353Gln
ENST00000693060.1:c.13270A>C	ENSP00000510329.1:p.Lys4424Gln
ENST00000345136.8:c.13339A>C MANE Select	ENSP00000344848.3:p.Lys4447Gln
ENST00000527303.2:c.10039A>C	ENSP00000433982.2:p.Lys3347Gln
ENST00000322810.8:c.13750A>C	ENSP00000323856.4:p.Lys4584Gln
ENST00000345136.7:c.13339A>C	ENSP00000344848.3:p.Lys4447Gln
ENST00000354589.7:c.13339A>C	ENSP00000346602.3:p.Lys4447Gln
ENST00000354958.6:c.13273A>C	ENSP00000347044.2:p.Lys4425Gln
ENST00000356346.7:c.13297A>C MANE Plus Clinical	ENSP00000348702.3:p.Lys4433Gln
ENST00000357649.6:c.13351A>C	ENSP00000350277.2:p.Lys4451Gln
ENST00000398774.6:c.13243A>C	ENSP00000381756.2:p.Lys4415Gln
ENST00000436759.6:c.13420A>C	ENSP00000388180.2:p.Lys4474Gln
ENST00000527096.5:c.13408A>C	ENSP00000434583.1:p.Lys4470Gln
NM_000445.4:c.13420A>C	NP_000436.2:p.Lys4474Gln
NM_201378.3:c.13297A>C	NP_958780.1:p.Lys4433Gln
NM_201379.2:c.13273A>C	NP_958781.1:p.Lys4425Gln
NM_201380.3:c.13750A>C	NP_958782.1:p.Lys4584Gln
NM_201381.2:c.13243A>C	NP_958783.1:p.Lys4415Gln
NM_201382.3:c.13339A>C	NP_958784.1:p.Lys4447Gln
NM_201383.2:c.13351A>C	NP_958785.1:p.Lys4451Gln
NM_201384.2:c.13339A>C	NP_958786.1:p.Lys4447Gln
XM_005250976.2:c.13765A>C	XP_005251033.1:p.Lys4589Gln
XM_005250978.2:c.13366A>C	XP_005251035.1:p.Lys4456Gln
XM_005250979.3:c.13354A>C	XP_005251036.1:p.Lys4452Gln
XM_005250980.3:c.13354A>C	XP_005251037.1:p.Lys4452Gln
XM_005250981.2:c.13312A>C	XP_005251038.1:p.Lys4438Gln
XM_005250982.2:c.13288A>C	XP_005251039.1:p.Lys4430Gln
XM_005250983.2:c.13270A>C	XP_005251040.1:p.Lys4424Gln
XM_005250984.3:c.13258A>C	XP_005251041.1:p.Lys4420Gln
XM_006716588.2:c.13435A>C	XP_006716651.1:p.Lys4479Gln
XM_006716589.2:c.13285A>C	XP_006716652.1:p.Lys4429Gln
XM_006716590.2:c.13285A>C	XP_006716653.1:p.Lys4429Gln
XM_011517130.1:c.13354A>C	XP_011515432.1:p.Lys4452Gln
XM_011517131.1:c.13270A>C	XP_011515433.1:p.Lys4424Gln
XM_011517132.1:c.9985A>C	XP_011515434.1:p.Lys3329Gln
XM_005250976.4:c.13765A>C	XP_005251033.1:p.Lys4589Gln
XM_005250978.3:c.13366A>C	XP_005251035.1:p.Lys4456Gln
XM_005250979.4:c.13354A>C	XP_005251036.1:p.Lys4452Gln
XM_005250980.4:c.13354A>C	XP_005251037.1:p.Lys4452Gln
XM_005250981.3:c.13312A>C	XP_005251038.1:p.Lys4438Gln
XM_005250982.4:c.13288A>C	XP_005251039.1:p.Lys4430Gln
XM_005250984.5:c.13258A>C	XP_005251041.1:p.Lys4420Gln
XM_006716588.3:c.13435A>C	XP_006716651.1:p.Lys4479Gln
XM_006716590.3:c.13285A>C	XP_006716653.1:p.Lys4429Gln
XM_011517130.2:c.13354A>C	XP_011515432.1:p.Lys4452Gln
XM_011517131.2:c.13270A>C	XP_011515433.1:p.Lys4424Gln
XM_011517132.2:c.9985A>C	XP_011515434.1:p.Lys3329Gln
NM_000445.5:c.13420A>C	NP_000436.2:p.Lys4474Gln
NM_201378.4:c.13297A>C MANE Plus Clinical	NP_958780.1:p.Lys4433Gln
NM_201379.3:c.13273A>C	NP_958781.1:p.Lys4425Gln
NM_201380.4:c.13750A>C	NP_958782.1:p.Lys4584Gln
NM_201381.3:c.13243A>C	NP_958783.1:p.Lys4415Gln
NM_201382.4:c.13339A>C	NP_958784.1:p.Lys4447Gln
NM_201383.3:c.13351A>C	NP_958785.1:p.Lys4451Gln
NM_201384.3:c.13339A>C MANE Select	NP_958786.1:p.Lys4447Gln