Canonical Allele Identifier: CA372487932

Gene: PLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143973407G>C , CM000670.2:g.143973407G>C	GRCh38
NC_000008.10:g.145047575G>C , CM000670.1:g.145047575G>C	GRCh37
NC_000008.9:g.145119563G>C	NCBI36
NG_012492.1:g.8339C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_201378.4:c.66C>G MANE Plus Clinical	NP_958780.1:p.Tyr22Ter
ENST00000356346.7:c.66C>G MANE Plus Clinical	ENSP00000348702.3:p.Tyr22Ter
NM_000445.4:c.193+1770C>G	NP_000436.2:n.193+1770C>G
NM_000445.5:c.193+1770C>G	NP_000436.2:n.193+1770C>G
NM_201378.3:c.66C>G	NP_958780.1:p.Tyr22Ter
ENST00000436759.6:c.193+1770C>G	ENSP00000388180.2:n.193+1770C>G
ENST00000527096.5:c.193+1770C>G	ENSP00000434583.1:n.193+1770C>G
ENST00000527303.2:c.193+1770C>G	ENSP00000433982.2:n.193+1770C>G
ENST00000528025.5:c.193+1770C>G	ENSP00000437303.1:n.193+1770C>G
ENST00000528025.6:c.193+1770C>G	ENSP00000437303.2:n.193+1770C>G
ENST00000532346.1:n.43+1770C>G
XM_005250981.2:c.66C>G	XP_005251038.1:p.Tyr22Ter
XM_005250981.3:c.66C>G	XP_005251038.1:p.Tyr22Ter
XM_006716588.2:c.193+1770C>G	XP_006716651.1:n.193+1770C>G
XM_006716588.3:c.193+1770C>G	XP_006716651.1:n.193+1770C>G