Canonical Allele Identifier: CA013880

Gene: MYL3

Linked Data

• ClinVar Variation Id: 31778
• ClinVar RCV Id: RCV000024469 ; RCV000036026 ; RCV000148717 ; RCV000196294 ; RCV000617202 ; RCV000624899 ; RCV000769165 ; RCV001807740
• dbSNP Id: rs199474707
• ExAC: 3:46900980 C / T
• gnomAD v2: 3-46900980-C-T
• gnomAD v3: 3-46859490-C-T
• gnomAD v4: 3-46859490-C-T
• MyVariant Identifiers: chr3:g.46900980C>T (hg19) ; chr3:g.46859490C>T (hg38)
• PubMed: PMID:16754800 ; PMID:23549607 ; PMID:24111713 ; PMID:25132132 ; PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859490C>T , CM000665.2:g.46859490C>T	GRCh38
NC_000003.11:g.46900980C>T , CM000665.1:g.46900980C>T	GRCh37
NC_000003.10:g.46875984C>T	NCBI36
NG_007555.2:g.27680G>A , LRG_395:g.27680G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000431168.2:c.466G>A	ENSP00000393455.2:p.Val156Met
ENST00000292327.6:c.466G>A MANE Select	ENSP00000292327.4:p.Val156Met
ENST00000653454.1:c.466G>A	ENSP00000499624.1:p.Val156Met
ENST00000654597.1:c.466G>A	ENSP00000499406.1:p.Val156Met
ENST00000655244.1:n.688G>A
ENST00000662933.1:c.466G>A	ENSP00000499577.1:p.Val156Met
ENST00000664891.1:n.424G>A
ENST00000292327.4:c.466G>A	ENSP00000292327.4:p.Val156Met
ENST00000395869.5:c.466G>A	ENSP00000379210.1:p.Val156Met
NM_000258.2:c.466G>A , LRG_395t1:c.466G>A	NP_000249.1:p.Val156Met
NM_000258.3:c.466G>A MANE Select	NP_000249.1:p.Val156Met