Canonical Allele Identifier: CA372475615

Gene: PLEC

Linked Data

• gnomAD v4: 8-143916484-T-A
• MyVariant Identifiers: chr8:g.144990652T>A (hg19) ; chr8:g.143916484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143916484T>A , CM000670.2:g.143916484T>A	GRCh38
NC_000008.10:g.144990652T>A , CM000670.1:g.144990652T>A	GRCh37
NC_000008.9:g.145062640T>A	NCBI36
NG_012492.1:g.65262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528025.6:c.13469A>T	ENSP00000437303.2:p.Tyr4490Phe
ENST00000685198.1:c.13388A>T	ENSP00000510528.1:p.Tyr4463Phe
ENST00000687971.1:c.13055A>T	ENSP00000510788.1:p.Tyr4352Phe
ENST00000693060.1:c.13268A>T	ENSP00000510329.1:p.Tyr4423Phe
ENST00000345136.8:c.13337A>T MANE Select	ENSP00000344848.3:p.Tyr4446Phe
ENST00000527303.2:c.10037A>T	ENSP00000433982.2:p.Tyr3346Phe
ENST00000322810.8:c.13748A>T	ENSP00000323856.4:p.Tyr4583Phe
ENST00000345136.7:c.13337A>T	ENSP00000344848.3:p.Tyr4446Phe
ENST00000354589.7:c.13337A>T	ENSP00000346602.3:p.Tyr4446Phe
ENST00000354958.6:c.13271A>T	ENSP00000347044.2:p.Tyr4424Phe
ENST00000356346.7:c.13295A>T MANE Plus Clinical	ENSP00000348702.3:p.Tyr4432Phe
ENST00000357649.6:c.13349A>T	ENSP00000350277.2:p.Tyr4450Phe
ENST00000398774.6:c.13241A>T	ENSP00000381756.2:p.Tyr4414Phe
ENST00000436759.6:c.13418A>T	ENSP00000388180.2:p.Tyr4473Phe
ENST00000527096.5:c.13406A>T	ENSP00000434583.1:p.Tyr4469Phe
NM_000445.4:c.13418A>T	NP_000436.2:p.Tyr4473Phe
NM_201378.3:c.13295A>T	NP_958780.1:p.Tyr4432Phe
NM_201379.2:c.13271A>T	NP_958781.1:p.Tyr4424Phe
NM_201380.3:c.13748A>T	NP_958782.1:p.Tyr4583Phe
NM_201381.2:c.13241A>T	NP_958783.1:p.Tyr4414Phe
NM_201382.3:c.13337A>T	NP_958784.1:p.Tyr4446Phe
NM_201383.2:c.13349A>T	NP_958785.1:p.Tyr4450Phe
NM_201384.2:c.13337A>T	NP_958786.1:p.Tyr4446Phe
XM_005250976.2:c.13763A>T	XP_005251033.1:p.Tyr4588Phe
XM_005250978.2:c.13364A>T	XP_005251035.1:p.Tyr4455Phe
XM_005250979.3:c.13352A>T	XP_005251036.1:p.Tyr4451Phe
XM_005250980.3:c.13352A>T	XP_005251037.1:p.Tyr4451Phe
XM_005250981.2:c.13310A>T	XP_005251038.1:p.Tyr4437Phe
XM_005250982.2:c.13286A>T	XP_005251039.1:p.Tyr4429Phe
XM_005250983.2:c.13268A>T	XP_005251040.1:p.Tyr4423Phe
XM_005250984.3:c.13256A>T	XP_005251041.1:p.Tyr4419Phe
XM_006716588.2:c.13433A>T	XP_006716651.1:p.Tyr4478Phe
XM_006716589.2:c.13283A>T	XP_006716652.1:p.Tyr4428Phe
XM_006716590.2:c.13283A>T	XP_006716653.1:p.Tyr4428Phe
XM_011517130.1:c.13352A>T	XP_011515432.1:p.Tyr4451Phe
XM_011517131.1:c.13268A>T	XP_011515433.1:p.Tyr4423Phe
XM_011517132.1:c.9983A>T	XP_011515434.1:p.Tyr3328Phe
XM_005250976.4:c.13763A>T	XP_005251033.1:p.Tyr4588Phe
XM_005250978.3:c.13364A>T	XP_005251035.1:p.Tyr4455Phe
XM_005250979.4:c.13352A>T	XP_005251036.1:p.Tyr4451Phe
XM_005250980.4:c.13352A>T	XP_005251037.1:p.Tyr4451Phe
XM_005250981.3:c.13310A>T	XP_005251038.1:p.Tyr4437Phe
XM_005250982.4:c.13286A>T	XP_005251039.1:p.Tyr4429Phe
XM_005250984.5:c.13256A>T	XP_005251041.1:p.Tyr4419Phe
XM_006716588.3:c.13433A>T	XP_006716651.1:p.Tyr4478Phe
XM_006716590.3:c.13283A>T	XP_006716653.1:p.Tyr4428Phe
XM_011517130.2:c.13352A>T	XP_011515432.1:p.Tyr4451Phe
XM_011517131.2:c.13268A>T	XP_011515433.1:p.Tyr4423Phe
XM_011517132.2:c.9983A>T	XP_011515434.1:p.Tyr3328Phe
NM_000445.5:c.13418A>T	NP_000436.2:p.Tyr4473Phe
NM_201378.4:c.13295A>T MANE Plus Clinical	NP_958780.1:p.Tyr4432Phe
NM_201379.3:c.13271A>T	NP_958781.1:p.Tyr4424Phe
NM_201380.4:c.13748A>T	NP_958782.1:p.Tyr4583Phe
NM_201381.3:c.13241A>T	NP_958783.1:p.Tyr4414Phe
NM_201382.4:c.13337A>T	NP_958784.1:p.Tyr4446Phe
NM_201383.3:c.13349A>T	NP_958785.1:p.Tyr4450Phe
NM_201384.3:c.13337A>T MANE Select	NP_958786.1:p.Tyr4446Phe