Canonical Allele Identifier: CA463529721
Community Standard Title: NM_201384.3(PLEC):c.10395G>A (p.Leu3465=)
Gene: PLEC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143919426C>T , CM000670.2:g.143919426C>T GRCh38
NC_000008.10:g.144993594C>T , CM000670.1:g.144993594C>T GRCh37
NC_000008.9:g.145065582C>T NCBI36
NG_012492.1:g.62320G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201384.3:c.10395G>A MANE Select NP_958786.1:p.Leu3465=
ENST00000345136.8:c.10395G>A MANE Select ENSP00000344848.3:p.Leu3465=
NM_201378.4:c.10353G>A MANE Plus Clinical NP_958780.1:p.Leu3451=
ENST00000356346.7:c.10353G>A MANE Plus Clinical ENSP00000348702.3:p.Leu3451=
NM_000445.4:c.10476G>A NP_000436.2:p.Leu3492=
NM_000445.5:c.10476G>A NP_000436.2:p.Leu3492=
NM_201378.3:c.10353G>A NP_958780.1:p.Leu3451=
NM_201379.2:c.10329G>A NP_958781.1:p.Leu3443=
NM_201379.3:c.10329G>A NP_958781.1:p.Leu3443=
NM_201380.3:c.10806G>A NP_958782.1:p.Leu3602=
NM_201380.4:c.10806G>A NP_958782.1:p.Leu3602=
NM_201381.2:c.10299G>A NP_958783.1:p.Leu3433=
NM_201381.3:c.10299G>A NP_958783.1:p.Leu3433=
NM_201382.3:c.10395G>A NP_958784.1:p.Leu3465=
NM_201382.4:c.10395G>A NP_958784.1:p.Leu3465=
NM_201383.2:c.10407G>A NP_958785.1:p.Leu3469=
NM_201383.3:c.10407G>A NP_958785.1:p.Leu3469=
NM_201384.2:c.10395G>A NP_958786.1:p.Leu3465=
ENST00000322810.8:c.10806G>A ENSP00000323856.4:p.Leu3602=
ENST00000345136.7:c.10395G>A ENSP00000344848.3:p.Leu3465=
ENST00000354589.7:c.10395G>A ENSP00000346602.3:p.Leu3465=
ENST00000354958.6:c.10329G>A ENSP00000347044.2:p.Leu3443=
ENST00000357649.6:c.10407G>A ENSP00000350277.2:p.Leu3469=
ENST00000398774.6:c.10299G>A ENSP00000381756.2:p.Leu3433=
ENST00000436759.6:c.10476G>A ENSP00000388180.2:p.Leu3492=
ENST00000527096.5:c.10464G>A ENSP00000434583.1:p.Leu3488=
ENST00000527303.2:c.7095G>A ENSP00000433982.2:p.Leu2365=
ENST00000528025.6:c.10527G>A ENSP00000437303.2:p.Leu3509=
ENST00000685198.1:c.10446G>A ENSP00000510528.1:p.Leu3482=
ENST00000687971.1:c.10113G>A ENSP00000510788.1:p.Leu3371=
ENST00000693060.1:c.10326G>A ENSP00000510329.1:p.Leu3442=
XM_005250976.2:c.10821G>A XP_005251033.1:p.Leu3607=
XM_005250976.4:c.10821G>A XP_005251033.1:p.Leu3607=
XM_005250978.2:c.10422G>A XP_005251035.1:p.Leu3474=
XM_005250978.3:c.10422G>A XP_005251035.1:p.Leu3474=
XM_005250979.3:c.10410G>A XP_005251036.1:p.Leu3470=
XM_005250979.4:c.10410G>A XP_005251036.1:p.Leu3470=
XM_005250980.3:c.10410G>A XP_005251037.1:p.Leu3470=
XM_005250980.4:c.10410G>A XP_005251037.1:p.Leu3470=
XM_005250981.2:c.10368G>A XP_005251038.1:p.Leu3456=
XM_005250981.3:c.10368G>A XP_005251038.1:p.Leu3456=
XM_005250982.2:c.10344G>A XP_005251039.1:p.Leu3448=
XM_005250982.4:c.10344G>A XP_005251039.1:p.Leu3448=
XM_005250983.2:c.10326G>A XP_005251040.1:p.Leu3442=
XM_005250984.3:c.10314G>A XP_005251041.1:p.Leu3438=
XM_005250984.5:c.10314G>A XP_005251041.1:p.Leu3438=
XM_006716588.2:c.10491G>A XP_006716651.1:p.Leu3497=
XM_006716588.3:c.10491G>A XP_006716651.1:p.Leu3497=
XM_006716589.2:c.10341G>A XP_006716652.1:p.Leu3447=
XM_006716590.2:c.10341G>A XP_006716653.1:p.Leu3447=
XM_006716590.3:c.10341G>A XP_006716653.1:p.Leu3447=
XM_011517130.1:c.10410G>A XP_011515432.1:p.Leu3470=
XM_011517130.2:c.10410G>A XP_011515432.1:p.Leu3470=
XM_011517131.1:c.10326G>A XP_011515433.1:p.Leu3442=
XM_011517131.2:c.10326G>A XP_011515433.1:p.Leu3442=
XM_011517132.1:c.7041G>A XP_011515434.1:p.Leu2347=
XM_011517132.2:c.7041G>A XP_011515434.1:p.Leu2347=