Canonical Allele Identifier: CA1826072923

Gene: PLEC

Linked Data

• dbSNP Id: rs1833481736

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143972510C>T , CM000670.2:g.143972510C>T	GRCh38
NC_000008.10:g.145046678C>T , CM000670.1:g.145046678C>T	GRCh37
NC_000008.9:g.145118666C>T	NCBI36
NG_012492.1:g.9236G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000528025.6:c.193+2667G>A	ENSP00000437303.2:n.193+2667G>A
ENST00000527303.2:c.193+2667G>A	ENSP00000433982.2:n.193+2667G>A
ENST00000356346.7:c.70+893G>A MANE Plus Clinical	ENSP00000348702.3:n.70+893G>A
ENST00000436759.6:c.193+2667G>A	ENSP00000388180.2:n.193+2667G>A
ENST00000527096.5:c.193+2667G>A	ENSP00000434583.1:n.193+2667G>A
ENST00000528025.5:c.193+2667G>A	ENSP00000437303.1:n.193+2667G>A
ENST00000532346.1:n.43+2667G>A
NM_000445.4:c.193+2667G>A	NP_000436.2:n.193+2667G>A
NM_201378.3:c.70+893G>A	NP_958780.1:n.70+893G>A
XM_005250981.2:c.70+893G>A	XP_005251038.1:n.70+893G>A
XM_006716588.2:c.193+2667G>A	XP_006716651.1:n.193+2667G>A
XM_005250981.3:c.70+893G>A	XP_005251038.1:n.70+893G>A
XM_006716588.3:c.193+2667G>A	XP_006716651.1:n.193+2667G>A
NM_000445.5:c.193+2667G>A	NP_000436.2:n.193+2667G>A
NM_201378.4:c.70+893G>A MANE Plus Clinical	NP_958780.1:n.70+893G>A