Canonical Allele Identifier: CA352497809

Gene: MYL3

Linked Data

• ClinVar Variation Id: 1396749
• ClinVar RCV Id: RCV001903148
• dbSNP Id: rs2106909627
• MyVariant Identifiers: chr3:g.46902177G>C (hg19) ; chr3:g.46860687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860687G>C , CM000665.2:g.46860687G>C	GRCh38
NC_000003.11:g.46902177G>C , CM000665.1:g.46902177G>C	GRCh37
NC_000003.10:g.46877181G>C	NCBI36
NG_007555.2:g.26483C>G , LRG_395:g.26483C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.296C>G	ENSP00000393455.2:p.Pro99Arg
ENST00000292327.6:c.296C>G MANE Select	ENSP00000292327.4:p.Pro99Arg
ENST00000653454.1:c.296C>G	ENSP00000499624.1:p.Pro99Arg
ENST00000654597.1:c.296C>G	ENSP00000499406.1:p.Pro99Arg
ENST00000655244.1:n.518C>G
ENST00000662933.1:c.296C>G	ENSP00000499577.1:p.Pro99Arg
ENST00000664891.1:n.254C>G
ENST00000292327.4:c.296C>G	ENSP00000292327.4:p.Pro99Arg
ENST00000395869.5:c.296C>G	ENSP00000379210.1:p.Pro99Arg
NM_000258.2:c.296C>G , LRG_395t1:c.296C>G	NP_000249.1:p.Pro99Arg
NM_000258.3:c.296C>G MANE Select	NP_000249.1:p.Pro99Arg