Canonical Allele Identifier: CA372475936

Gene: PLEC

Linked Data

• ClinVar Variation Id: 487244
• ClinVar RCV Id: RCV000576154
• dbSNP Id: rs1554669693
• MyVariant Identifiers: chr8:g.144990769G>C (hg19) ; chr8:g.143916601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916601G>C , CM000670.2:g.143916601G>C	GRCh38
NC_000008.10:g.144990769G>C , CM000670.1:g.144990769G>C	GRCh37
NC_000008.9:g.145062757G>C	NCBI36
NG_012492.1:g.65145C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13352C>G	ENSP00000437303.2:p.Pro4451Arg
ENST00000685198.1:c.13271C>G	ENSP00000510528.1:p.Pro4424Arg
ENST00000687971.1:c.12938C>G	ENSP00000510788.1:p.Pro4313Arg
ENST00000693060.1:c.13151C>G	ENSP00000510329.1:p.Pro4384Arg
ENST00000345136.8:c.13220C>G MANE Select	ENSP00000344848.3:p.Pro4407Arg
ENST00000527303.2:c.9920C>G	ENSP00000433982.2:p.Pro3307Arg
ENST00000322810.8:c.13631C>G	ENSP00000323856.4:p.Pro4544Arg
ENST00000345136.7:c.13220C>G	ENSP00000344848.3:p.Pro4407Arg
ENST00000354589.7:c.13220C>G	ENSP00000346602.3:p.Pro4407Arg
ENST00000354958.6:c.13154C>G	ENSP00000347044.2:p.Pro4385Arg
ENST00000356346.7:c.13178C>G MANE Plus Clinical	ENSP00000348702.3:p.Pro4393Arg
ENST00000357649.6:c.13232C>G	ENSP00000350277.2:p.Pro4411Arg
ENST00000398774.6:c.13124C>G	ENSP00000381756.2:p.Pro4375Arg
ENST00000436759.6:c.13301C>G	ENSP00000388180.2:p.Pro4434Arg
ENST00000527096.5:c.13289C>G	ENSP00000434583.1:p.Pro4430Arg
NM_000445.4:c.13301C>G	NP_000436.2:p.Pro4434Arg
NM_201378.3:c.13178C>G	NP_958780.1:p.Pro4393Arg
NM_201379.2:c.13154C>G	NP_958781.1:p.Pro4385Arg
NM_201380.3:c.13631C>G	NP_958782.1:p.Pro4544Arg
NM_201381.2:c.13124C>G	NP_958783.1:p.Pro4375Arg
NM_201382.3:c.13220C>G	NP_958784.1:p.Pro4407Arg
NM_201383.2:c.13232C>G	NP_958785.1:p.Pro4411Arg
NM_201384.2:c.13220C>G	NP_958786.1:p.Pro4407Arg
XM_005250976.2:c.13646C>G	XP_005251033.1:p.Pro4549Arg
XM_005250978.2:c.13247C>G	XP_005251035.1:p.Pro4416Arg
XM_005250979.3:c.13235C>G	XP_005251036.1:p.Pro4412Arg
XM_005250980.3:c.13235C>G	XP_005251037.1:p.Pro4412Arg
XM_005250981.2:c.13193C>G	XP_005251038.1:p.Pro4398Arg
XM_005250982.2:c.13169C>G	XP_005251039.1:p.Pro4390Arg
XM_005250983.2:c.13151C>G	XP_005251040.1:p.Pro4384Arg
XM_005250984.3:c.13139C>G	XP_005251041.1:p.Pro4380Arg
XM_006716588.2:c.13316C>G	XP_006716651.1:p.Pro4439Arg
XM_006716589.2:c.13166C>G	XP_006716652.1:p.Pro4389Arg
XM_006716590.2:c.13166C>G	XP_006716653.1:p.Pro4389Arg
XM_011517130.1:c.13235C>G	XP_011515432.1:p.Pro4412Arg
XM_011517131.1:c.13151C>G	XP_011515433.1:p.Pro4384Arg
XM_011517132.1:c.9866C>G	XP_011515434.1:p.Pro3289Arg
XM_005250976.4:c.13646C>G	XP_005251033.1:p.Pro4549Arg
XM_005250978.3:c.13247C>G	XP_005251035.1:p.Pro4416Arg
XM_005250979.4:c.13235C>G	XP_005251036.1:p.Pro4412Arg
XM_005250980.4:c.13235C>G	XP_005251037.1:p.Pro4412Arg
XM_005250981.3:c.13193C>G	XP_005251038.1:p.Pro4398Arg
XM_005250982.4:c.13169C>G	XP_005251039.1:p.Pro4390Arg
XM_005250984.5:c.13139C>G	XP_005251041.1:p.Pro4380Arg
XM_006716588.3:c.13316C>G	XP_006716651.1:p.Pro4439Arg
XM_006716590.3:c.13166C>G	XP_006716653.1:p.Pro4389Arg
XM_011517130.2:c.13235C>G	XP_011515432.1:p.Pro4412Arg
XM_011517131.2:c.13151C>G	XP_011515433.1:p.Pro4384Arg
XM_011517132.2:c.9866C>G	XP_011515434.1:p.Pro3289Arg
NM_000445.5:c.13301C>G	NP_000436.2:p.Pro4434Arg
NM_201378.4:c.13178C>G MANE Plus Clinical	NP_958780.1:p.Pro4393Arg
NM_201379.3:c.13154C>G	NP_958781.1:p.Pro4385Arg
NM_201380.4:c.13631C>G	NP_958782.1:p.Pro4544Arg
NM_201381.3:c.13124C>G	NP_958783.1:p.Pro4375Arg
NM_201382.4:c.13220C>G	NP_958784.1:p.Pro4407Arg
NM_201383.3:c.13232C>G	NP_958785.1:p.Pro4411Arg
NM_201384.3:c.13220C>G MANE Select	NP_958786.1:p.Pro4407Arg