Canonical Allele Identifier: CA352498602

Gene: MYL3

Linked Data

• ClinVar Variation Id: 923689
• ClinVar RCV Id: RCV001184606 ; RCV003586284
• dbSNP Id: rs1367233580
• gnomAD v3: 3-46860805-G-C
• gnomAD v4: 3-46860805-G-C
• MyVariant Identifiers: chr3:g.46902295G>C (hg19) ; chr3:g.46860805G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860805G>C , CM000665.2:g.46860805G>C	GRCh38
NC_000003.11:g.46902295G>C , CM000665.1:g.46902295G>C	GRCh37
NC_000003.10:g.46877299G>C	NCBI36
NG_007555.2:g.26365C>G , LRG_395:g.26365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.178C>G	ENSP00000393455.2:p.Leu60Val
ENST00000292327.6:c.178C>G MANE Select	ENSP00000292327.4:p.Leu60Val
ENST00000653454.1:c.178C>G	ENSP00000499624.1:p.Leu60Val
ENST00000654597.1:c.178C>G	ENSP00000499406.1:p.Leu60Val
ENST00000655244.1:n.400C>G
ENST00000662933.1:c.178C>G	ENSP00000499577.1:p.Leu60Val
ENST00000664891.1:n.136C>G
ENST00000292327.4:c.178C>G	ENSP00000292327.4:p.Leu60Val
ENST00000395869.5:c.178C>G	ENSP00000379210.1:p.Leu60Val
NM_000258.2:c.178C>G , LRG_395t1:c.178C>G	NP_000249.1:p.Leu60Val
NM_000258.3:c.178C>G MANE Select	NP_000249.1:p.Leu60Val