Canonical Allele Identifier: CA352495892
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 848489
dbSNP Id: rs199474707
gnomAD v2: 3-46900980-C-G
gnomAD v4: 3-46859490-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.466G>C ENSP00000393455.2:p.Val156Leu
ENST00000292327.6:c.466G>C MANE Select ENSP00000292327.4:p.Val156Leu
ENST00000653454.1:c.466G>C ENSP00000499624.1:p.Val156Leu
ENST00000654597.1:c.466G>C ENSP00000499406.1:p.Val156Leu
ENST00000655244.1:n.688G>C
ENST00000662933.1:c.466G>C ENSP00000499577.1:p.Val156Leu
ENST00000664891.1:n.424G>C
ENST00000292327.4:c.466G>C ENSP00000292327.4:p.Val156Leu
ENST00000395869.5:c.466G>C ENSP00000379210.1:p.Val156Leu
NM_000258.2:c.466G>C , LRG_395t1:c.466G>C NP_000249.1:p.Val156Leu
NM_000258.3:c.466G>C MANE Select NP_000249.1:p.Val156Leu