Canonical Allele Identifier: CA013774

Gene: MYL3

Linked Data

• ClinVar Variation Id: 14063
• ClinVar RCV Id: RCV000015107 ; RCV000199993 ; RCV000249729 ; RCV000036022 ; RCV001186218 ; RCV001201266 ; RCV000497294 ; RCV003407333
• dbSNP Id: rs104893750
• gnomAD v2: 3-46901019-C-T
• gnomAD v3: 3-46859529-C-T
• gnomAD v4: 3-46859529-C-T
• MyVariant Identifiers: chr3:g.46901019C>T (hg19) ; chr3:g.46859529C>T (hg38)
• PubMed: PMID:12021217 ; PMID:21823217 ; PMID:22131351 ; PMID:25342278 ; PMID:25910212 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859529C>T , CM000665.2:g.46859529C>T	GRCh38
NC_000003.11:g.46901019C>T , CM000665.1:g.46901019C>T	GRCh37
NC_000003.10:g.46876023C>T	NCBI36
NG_007555.2:g.27641G>A , LRG_395:g.27641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.427G>A	ENSP00000393455.2:p.Glu143Lys
ENST00000292327.6:c.427G>A MANE Select	ENSP00000292327.4:p.Glu143Lys
ENST00000653454.1:c.427G>A	ENSP00000499624.1:p.Glu143Lys
ENST00000654597.1:c.427G>A	ENSP00000499406.1:p.Glu143Lys
ENST00000655244.1:n.649G>A
ENST00000662933.1:c.427G>A	ENSP00000499577.1:p.Glu143Lys
ENST00000664891.1:n.385G>A
ENST00000292327.4:c.427G>A	ENSP00000292327.4:p.Glu143Lys
ENST00000395869.5:c.427G>A	ENSP00000379210.1:p.Glu143Lys
NM_000258.2:c.427G>A , LRG_395t1:c.427G>A	NP_000249.1:p.Glu143Lys
NM_000258.3:c.427G>A MANE Select	NP_000249.1:p.Glu143Lys