Canonical Allele Identifier: CA1139658040

Gene: MYL3

Linked Data

• ClinVar Variation Id: 935720
• ClinVar RCV Id: RCV001204371
• dbSNP Id: rs1701967931

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859552_46859556dup , CM000665.2:g.46859552_46859556dup	GRCh38
NC_000003.11:g.46901042_46901046dup , CM000665.1:g.46901042_46901046dup	GRCh37
NC_000003.10:g.46876046_46876050dup	NCBI36
NG_007555.2:g.27615_27619dup , LRG_395:g.27615_27619dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.401_405dup	ENSP00000393455.2:p.Gly136TrpfsTer31
ENST00000292327.6:c.401_405dup MANE Select	ENSP00000292327.4:p.Gly136TrpfsTer31
ENST00000653454.1:c.401_405dup	ENSP00000499624.1:p.Gly136TrpfsTer31
ENST00000654597.1:c.401_405dup	ENSP00000499406.1:p.Gly136TrpfsTer31
ENST00000655244.1:n.623_627dup
ENST00000662933.1:c.401_405dup	ENSP00000499577.1:p.Gly136TrpfsTer31
ENST00000664891.1:n.359_363dup
ENST00000292327.4:c.401_405dup	ENSP00000292327.4:p.Gly136TrpfsTer31
ENST00000395869.5:c.401_405dup	ENSP00000379210.1:p.Gly136TrpfsTer31
NM_000258.2:c.401_405dup , LRG_395t1:c.401_405dup	NP_000249.1:p.Gly136TrpfsTer31
NM_000258.3:c.401_405dup MANE Select	NP_000249.1:p.Gly136TrpfsTer31