Canonical Allele Identifier: CA848827902

Gene: PLEC

Linked Data

• dbSNP Id: rs1188538365
• gnomAD v3: 8-143972429-G-C
• gnomAD v4: 8-143972429-G-C
• MyVariant Identifiers: chr8:g.143972429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143972429G>C , CM000670.2:g.143972429G>C	GRCh38
NC_000008.10:g.145046597G>C , CM000670.1:g.145046597G>C	GRCh37
NC_000008.9:g.145118585G>C	NCBI36
NG_012492.1:g.9317C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.193+2748C>G	ENSP00000437303.2:n.193+2748C>G
ENST00000527303.2:c.193+2748C>G	ENSP00000433982.2:n.193+2748C>G
ENST00000356346.7:c.70+974C>G MANE Plus Clinical	ENSP00000348702.3:n.70+974C>G
ENST00000436759.6:c.193+2748C>G	ENSP00000388180.2:n.193+2748C>G
ENST00000527096.5:c.193+2748C>G	ENSP00000434583.1:n.193+2748C>G
ENST00000528025.5:c.193+2748C>G	ENSP00000437303.1:n.193+2748C>G
ENST00000532346.1:n.43+2748C>G
NM_000445.4:c.193+2748C>G	NP_000436.2:n.193+2748C>G
NM_201378.3:c.70+974C>G	NP_958780.1:n.70+974C>G
XM_005250981.2:c.70+974C>G	XP_005251038.1:n.70+974C>G
XM_006716588.2:c.193+2748C>G	XP_006716651.1:n.193+2748C>G
XM_005250981.3:c.70+974C>G	XP_005251038.1:n.70+974C>G
XM_006716588.3:c.193+2748C>G	XP_006716651.1:n.193+2748C>G
NM_000445.5:c.193+2748C>G	NP_000436.2:n.193+2748C>G
NM_201378.4:c.70+974C>G MANE Plus Clinical	NP_958780.1:n.70+974C>G