Canonical Allele Identifier: CA463525636

Gene: PLEC

Linked Data

• dbSNP Id: rs1554669343
• gnomAD v2: 8-144990675-A-G
• gnomAD v4: 8-143916507-A-G
• COSMIC: COSM3897584 ; COSM3897585 ; COSM3897586 ; COSM3897587 ; COSM3897588 ; COSM3897589 ; COSM4907694
• MyVariant Identifiers: chr8:g.144990675A>G (hg19) ; chr8:g.143916507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916507A>G , CM000670.2:g.143916507A>G	GRCh38
NC_000008.10:g.144990675A>G , CM000670.1:g.144990675A>G	GRCh37
NC_000008.9:g.145062663A>G	NCBI36
NG_012492.1:g.65239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13446T>C	ENSP00000437303.2:p.Pro4482=
ENST00000685198.1:c.13365T>C	ENSP00000510528.1:p.Pro4455=
ENST00000687971.1:c.13032T>C	ENSP00000510788.1:p.Pro4344=
ENST00000693060.1:c.13245T>C	ENSP00000510329.1:p.Pro4415=
ENST00000345136.8:c.13314T>C MANE Select	ENSP00000344848.3:p.Pro4438=
ENST00000527303.2:c.10014T>C	ENSP00000433982.2:p.Pro3338=
ENST00000322810.8:c.13725T>C	ENSP00000323856.4:p.Pro4575=
ENST00000345136.7:c.13314T>C	ENSP00000344848.3:p.Pro4438=
ENST00000354589.7:c.13314T>C	ENSP00000346602.3:p.Pro4438=
ENST00000354958.6:c.13248T>C	ENSP00000347044.2:p.Pro4416=
ENST00000356346.7:c.13272T>C MANE Plus Clinical	ENSP00000348702.3:p.Pro4424=
ENST00000357649.6:c.13326T>C	ENSP00000350277.2:p.Pro4442=
ENST00000398774.6:c.13218T>C	ENSP00000381756.2:p.Pro4406=
ENST00000436759.6:c.13395T>C	ENSP00000388180.2:p.Pro4465=
ENST00000527096.5:c.13383T>C	ENSP00000434583.1:p.Pro4461=
NM_000445.4:c.13395T>C	NP_000436.2:p.Pro4465=
NM_201378.3:c.13272T>C	NP_958780.1:p.Pro4424=
NM_201379.2:c.13248T>C	NP_958781.1:p.Pro4416=
NM_201380.3:c.13725T>C	NP_958782.1:p.Pro4575=
NM_201381.2:c.13218T>C	NP_958783.1:p.Pro4406=
NM_201382.3:c.13314T>C	NP_958784.1:p.Pro4438=
NM_201383.2:c.13326T>C	NP_958785.1:p.Pro4442=
NM_201384.2:c.13314T>C	NP_958786.1:p.Pro4438=
XM_005250976.2:c.13740T>C	XP_005251033.1:p.Pro4580=
XM_005250978.2:c.13341T>C	XP_005251035.1:p.Pro4447=
XM_005250979.3:c.13329T>C	XP_005251036.1:p.Pro4443=
XM_005250980.3:c.13329T>C	XP_005251037.1:p.Pro4443=
XM_005250981.2:c.13287T>C	XP_005251038.1:p.Pro4429=
XM_005250982.2:c.13263T>C	XP_005251039.1:p.Pro4421=
XM_005250983.2:c.13245T>C	XP_005251040.1:p.Pro4415=
XM_005250984.3:c.13233T>C	XP_005251041.1:p.Pro4411=
XM_006716588.2:c.13410T>C	XP_006716651.1:p.Pro4470=
XM_006716589.2:c.13260T>C	XP_006716652.1:p.Pro4420=
XM_006716590.2:c.13260T>C	XP_006716653.1:p.Pro4420=
XM_011517130.1:c.13329T>C	XP_011515432.1:p.Pro4443=
XM_011517131.1:c.13245T>C	XP_011515433.1:p.Pro4415=
XM_011517132.1:c.9960T>C	XP_011515434.1:p.Pro3320=
XM_005250976.4:c.13740T>C	XP_005251033.1:p.Pro4580=
XM_005250978.3:c.13341T>C	XP_005251035.1:p.Pro4447=
XM_005250979.4:c.13329T>C	XP_005251036.1:p.Pro4443=
XM_005250980.4:c.13329T>C	XP_005251037.1:p.Pro4443=
XM_005250981.3:c.13287T>C	XP_005251038.1:p.Pro4429=
XM_005250982.4:c.13263T>C	XP_005251039.1:p.Pro4421=
XM_005250984.5:c.13233T>C	XP_005251041.1:p.Pro4411=
XM_006716588.3:c.13410T>C	XP_006716651.1:p.Pro4470=
XM_006716590.3:c.13260T>C	XP_006716653.1:p.Pro4420=
XM_011517130.2:c.13329T>C	XP_011515432.1:p.Pro4443=
XM_011517131.2:c.13245T>C	XP_011515433.1:p.Pro4415=
XM_011517132.2:c.9960T>C	XP_011515434.1:p.Pro3320=
NM_000445.5:c.13395T>C	NP_000436.2:p.Pro4465=
NM_201378.4:c.13272T>C MANE Plus Clinical	NP_958780.1:p.Pro4424=
NM_201379.3:c.13248T>C	NP_958781.1:p.Pro4416=
NM_201380.4:c.13725T>C	NP_958782.1:p.Pro4575=
NM_201381.3:c.13218T>C	NP_958783.1:p.Pro4406=
NM_201382.4:c.13314T>C	NP_958784.1:p.Pro4438=
NM_201383.3:c.13326T>C	NP_958785.1:p.Pro4442=
NM_201384.3:c.13314T>C MANE Select	NP_958786.1:p.Pro4438=