Canonical Allele Identifier: CA187605289
Gene: PLEC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143969375A>G , CM000670.2:g.143969375A>G GRCh38
NC_000008.10:g.145043543A>G , CM000670.1:g.145043543A>G GRCh37
NC_000008.9:g.145115531A>G NCBI36
NG_012492.1:g.12371T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.193+5802T>C ENSP00000437303.2:n.193+5802T>C
ENST00000527303.2:c.193+5802T>C ENSP00000433982.2:n.193+5802T>C
ENST00000356346.7:c.70+4028T>C MANE Plus Clinical ENSP00000348702.3:n.70+4028T>C
ENST00000436759.6:c.193+5802T>C ENSP00000388180.2:n.193+5802T>C
ENST00000527096.5:c.193+5802T>C ENSP00000434583.1:n.193+5802T>C
ENST00000528025.5:c.193+5802T>C ENSP00000437303.1:n.193+5802T>C
ENST00000532346.1:n.43+5802T>C
NM_000445.4:c.193+5802T>C NP_000436.2:n.193+5802T>C
NM_201378.3:c.70+4028T>C NP_958780.1:n.70+4028T>C
XM_005250981.2:c.70+4028T>C XP_005251038.1:n.70+4028T>C
XM_006716588.2:c.193+5802T>C XP_006716651.1:n.193+5802T>C
XM_005250981.3:c.70+4028T>C XP_005251038.1:n.70+4028T>C
XM_006716588.3:c.193+5802T>C XP_006716651.1:n.193+5802T>C
NM_000445.5:c.193+5802T>C NP_000436.2:n.193+5802T>C
NM_201378.4:c.70+4028T>C MANE Plus Clinical NP_958780.1:n.70+4028T>C
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