Canonical Allele Identifier: CA372581979

Gene: PLEC

Linked Data

• MyVariant Identifiers: chr8:g.145007390G>C (hg19) ; chr8:g.143933222G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143933222G>C , CM000670.2:g.143933222G>C	GRCh38
NC_000008.10:g.145007390G>C , CM000670.1:g.145007390G>C	GRCh37
NC_000008.9:g.145079378G>C	NCBI36
NG_012492.1:g.48524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.1525C>G	ENSP00000437303.2:p.Pro509Ala
ENST00000685198.1:c.1444C>G	ENSP00000510528.1:p.Pro482Ala
ENST00000687971.1:c.1111C>G	ENSP00000510788.1:p.Pro371Ala
ENST00000693060.1:c.1324C>G	ENSP00000510329.1:p.Pro442Ala
ENST00000345136.8:c.1393C>G MANE Select	ENSP00000344848.3:p.Pro465Ala
ENST00000527303.2:c.1474C>G	ENSP00000433982.2:p.Pro492Ala
ENST00000322810.8:c.1804C>G	ENSP00000323856.4:p.Pro602Ala
ENST00000345136.7:c.1393C>G	ENSP00000344848.3:p.Pro465Ala
ENST00000354589.7:c.1393C>G	ENSP00000346602.3:p.Pro465Ala
ENST00000354958.6:c.1327C>G	ENSP00000347044.2:p.Pro443Ala
ENST00000356346.7:c.1351C>G MANE Plus Clinical	ENSP00000348702.3:p.Pro451Ala
ENST00000357649.6:c.1405C>G	ENSP00000350277.2:p.Pro469Ala
ENST00000398774.6:c.1297C>G	ENSP00000381756.2:p.Pro433Ala
ENST00000436759.6:c.1474C>G	ENSP00000388180.2:p.Pro492Ala
ENST00000527096.5:c.1462C>G	ENSP00000434583.1:p.Pro488Ala
ENST00000528025.5:c.1525C>G	ENSP00000437303.1:p.Pro509Ala
NM_000445.4:c.1474C>G	NP_000436.2:p.Pro492Ala
NM_201378.3:c.1351C>G	NP_958780.1:p.Pro451Ala
NM_201379.2:c.1327C>G	NP_958781.1:p.Pro443Ala
NM_201380.3:c.1804C>G	NP_958782.1:p.Pro602Ala
NM_201381.2:c.1297C>G	NP_958783.1:p.Pro433Ala
NM_201382.3:c.1393C>G	NP_958784.1:p.Pro465Ala
NM_201383.2:c.1405C>G	NP_958785.1:p.Pro469Ala
NM_201384.2:c.1393C>G	NP_958786.1:p.Pro465Ala
XM_005250976.2:c.1819C>G	XP_005251033.1:p.Pro607Ala
XM_005250978.2:c.1420C>G	XP_005251035.1:p.Pro474Ala
XM_005250979.3:c.1408C>G	XP_005251036.1:p.Pro470Ala
XM_005250980.3:c.1408C>G	XP_005251037.1:p.Pro470Ala
XM_005250981.2:c.1366C>G	XP_005251038.1:p.Pro456Ala
XM_005250982.2:c.1342C>G	XP_005251039.1:p.Pro448Ala
XM_005250983.2:c.1324C>G	XP_005251040.1:p.Pro442Ala
XM_005250984.3:c.1312C>G	XP_005251041.1:p.Pro438Ala
XM_006716588.2:c.1489C>G	XP_006716651.1:p.Pro497Ala
XM_006716589.2:c.1339C>G	XP_006716652.1:p.Pro447Ala
XM_006716590.2:c.1339C>G	XP_006716653.1:p.Pro447Ala
XM_011517130.1:c.1408C>G	XP_011515432.1:p.Pro470Ala
XM_011517131.1:c.1324C>G	XP_011515433.1:p.Pro442Ala
XM_011517132.1:c.1420C>G	XP_011515434.1:p.Pro474Ala
XM_005250976.4:c.1819C>G	XP_005251033.1:p.Pro607Ala
XM_005250978.3:c.1420C>G	XP_005251035.1:p.Pro474Ala
XM_005250979.4:c.1408C>G	XP_005251036.1:p.Pro470Ala
XM_005250980.4:c.1408C>G	XP_005251037.1:p.Pro470Ala
XM_005250981.3:c.1366C>G	XP_005251038.1:p.Pro456Ala
XM_005250982.4:c.1342C>G	XP_005251039.1:p.Pro448Ala
XM_005250984.5:c.1312C>G	XP_005251041.1:p.Pro438Ala
XM_006716588.3:c.1489C>G	XP_006716651.1:p.Pro497Ala
XM_006716590.3:c.1339C>G	XP_006716653.1:p.Pro447Ala
XM_011517130.2:c.1408C>G	XP_011515432.1:p.Pro470Ala
XM_011517131.2:c.1324C>G	XP_011515433.1:p.Pro442Ala
XM_011517132.2:c.1420C>G	XP_011515434.1:p.Pro474Ala
NM_000445.5:c.1474C>G	NP_000436.2:p.Pro492Ala
NM_201378.4:c.1351C>G MANE Plus Clinical	NP_958780.1:p.Pro451Ala
NM_201379.3:c.1327C>G	NP_958781.1:p.Pro443Ala
NM_201380.4:c.1804C>G	NP_958782.1:p.Pro602Ala
NM_201381.3:c.1297C>G	NP_958783.1:p.Pro433Ala
NM_201382.4:c.1393C>G	NP_958784.1:p.Pro465Ala
NM_201383.3:c.1405C>G	NP_958785.1:p.Pro469Ala
NM_201384.3:c.1393C>G MANE Select	NP_958786.1:p.Pro465Ala