Canonical Allele Identifier: CA372491241

Gene: PLEC

Linked Data

• ClinVar Variation Id: 538961
• ClinVar RCV Id: RCV000648519
• dbSNP Id: rs1554675388
• MyVariant Identifiers: chr8:g.144992639G>A (hg19) ; chr8:g.143918471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143918471G>A , CM000670.2:g.143918471G>A	GRCh38
NC_000008.10:g.144992639G>A , CM000670.1:g.144992639G>A	GRCh37
NC_000008.9:g.145064627G>A	NCBI36
NG_012492.1:g.63275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.11482C>T	ENSP00000437303.2:p.Gln3828Ter
ENST00000685198.1:c.11401C>T	ENSP00000510528.1:p.Gln3801Ter
ENST00000687971.1:c.11068C>T	ENSP00000510788.1:p.Gln3690Ter
ENST00000693060.1:c.11281C>T	ENSP00000510329.1:p.Gln3761Ter
ENST00000345136.8:c.11350C>T MANE Select	ENSP00000344848.3:p.Gln3784Ter
ENST00000527303.2:c.8050C>T	ENSP00000433982.2:p.Gln2684Ter
ENST00000322810.8:c.11761C>T	ENSP00000323856.4:p.Gln3921Ter
ENST00000345136.7:c.11350C>T	ENSP00000344848.3:p.Gln3784Ter
ENST00000354589.7:c.11350C>T	ENSP00000346602.3:p.Gln3784Ter
ENST00000354958.6:c.11284C>T	ENSP00000347044.2:p.Gln3762Ter
ENST00000356346.7:c.11308C>T MANE Plus Clinical	ENSP00000348702.3:p.Gln3770Ter
ENST00000357649.6:c.11362C>T	ENSP00000350277.2:p.Gln3788Ter
ENST00000398774.6:c.11254C>T	ENSP00000381756.2:p.Gln3752Ter
ENST00000436759.6:c.11431C>T	ENSP00000388180.2:p.Gln3811Ter
ENST00000527096.5:c.11419C>T	ENSP00000434583.1:p.Gln3807Ter
NM_000445.4:c.11431C>T	NP_000436.2:p.Gln3811Ter
NM_201378.3:c.11308C>T	NP_958780.1:p.Gln3770Ter
NM_201379.2:c.11284C>T	NP_958781.1:p.Gln3762Ter
NM_201380.3:c.11761C>T	NP_958782.1:p.Gln3921Ter
NM_201381.2:c.11254C>T	NP_958783.1:p.Gln3752Ter
NM_201382.3:c.11350C>T	NP_958784.1:p.Gln3784Ter
NM_201383.2:c.11362C>T	NP_958785.1:p.Gln3788Ter
NM_201384.2:c.11350C>T	NP_958786.1:p.Gln3784Ter
XM_005250976.2:c.11776C>T	XP_005251033.1:p.Gln3926Ter
XM_005250978.2:c.11377C>T	XP_005251035.1:p.Gln3793Ter
XM_005250979.3:c.11365C>T	XP_005251036.1:p.Gln3789Ter
XM_005250980.3:c.11365C>T	XP_005251037.1:p.Gln3789Ter
XM_005250981.2:c.11323C>T	XP_005251038.1:p.Gln3775Ter
XM_005250982.2:c.11299C>T	XP_005251039.1:p.Gln3767Ter
XM_005250983.2:c.11281C>T	XP_005251040.1:p.Gln3761Ter
XM_005250984.3:c.11269C>T	XP_005251041.1:p.Gln3757Ter
XM_006716588.2:c.11446C>T	XP_006716651.1:p.Gln3816Ter
XM_006716589.2:c.11296C>T	XP_006716652.1:p.Gln3766Ter
XM_006716590.2:c.11296C>T	XP_006716653.1:p.Gln3766Ter
XM_011517130.1:c.11365C>T	XP_011515432.1:p.Gln3789Ter
XM_011517131.1:c.11281C>T	XP_011515433.1:p.Gln3761Ter
XM_011517132.1:c.7996C>T	XP_011515434.1:p.Gln2666Ter
XM_005250976.4:c.11776C>T	XP_005251033.1:p.Gln3926Ter
XM_005250978.3:c.11377C>T	XP_005251035.1:p.Gln3793Ter
XM_005250979.4:c.11365C>T	XP_005251036.1:p.Gln3789Ter
XM_005250980.4:c.11365C>T	XP_005251037.1:p.Gln3789Ter
XM_005250981.3:c.11323C>T	XP_005251038.1:p.Gln3775Ter
XM_005250982.4:c.11299C>T	XP_005251039.1:p.Gln3767Ter
XM_005250984.5:c.11269C>T	XP_005251041.1:p.Gln3757Ter
XM_006716588.3:c.11446C>T	XP_006716651.1:p.Gln3816Ter
XM_006716590.3:c.11296C>T	XP_006716653.1:p.Gln3766Ter
XM_011517130.2:c.11365C>T	XP_011515432.1:p.Gln3789Ter
XM_011517131.2:c.11281C>T	XP_011515433.1:p.Gln3761Ter
XM_011517132.2:c.7996C>T	XP_011515434.1:p.Gln2666Ter
NM_000445.5:c.11431C>T	NP_000436.2:p.Gln3811Ter
NM_201378.4:c.11308C>T MANE Plus Clinical	NP_958780.1:p.Gln3770Ter
NM_201379.3:c.11284C>T	NP_958781.1:p.Gln3762Ter
NM_201380.4:c.11761C>T	NP_958782.1:p.Gln3921Ter
NM_201381.3:c.11254C>T	NP_958783.1:p.Gln3752Ter
NM_201382.4:c.11350C>T	NP_958784.1:p.Gln3784Ter
NM_201383.3:c.11362C>T	NP_958785.1:p.Gln3788Ter
NM_201384.3:c.11350C>T MANE Select	NP_958786.1:p.Gln3784Ter