Canonical Allele Identifier: CA013830

Gene: MYL3

Linked Data

• ClinVar Variation Id: 181444
• ClinVar RCV Id: RCV000158949 ; RCV003447508
• dbSNP Id: rs730880162
• COSMIC: COSM6396813
• MyVariant Identifiers: chr3:g.46900999C>A (hg19) ; chr3:g.46859509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859509C>A , CM000665.2:g.46859509C>A	GRCh38
NC_000003.11:g.46900999C>A , CM000665.1:g.46900999C>A	GRCh37
NC_000003.10:g.46876003C>A	NCBI36
NG_007555.2:g.27661G>T , LRG_395:g.27661G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000431168.2:c.447G>T	ENSP00000393455.2:p.Met149Ile
ENST00000292327.6:c.447G>T MANE Select	ENSP00000292327.4:p.Met149Ile
ENST00000653454.1:c.447G>T	ENSP00000499624.1:p.Met149Ile
ENST00000654597.1:c.447G>T	ENSP00000499406.1:p.Met149Ile
ENST00000655244.1:n.669G>T
ENST00000662933.1:c.447G>T	ENSP00000499577.1:p.Met149Ile
ENST00000664891.1:n.405G>T
ENST00000292327.4:c.447G>T	ENSP00000292327.4:p.Met149Ile
ENST00000395869.5:c.447G>T	ENSP00000379210.1:p.Met149Ile
NM_000258.2:c.447G>T , LRG_395t1:c.447G>T	NP_000249.1:p.Met149Ile
NM_000258.3:c.447G>T MANE Select	NP_000249.1:p.Met149Ile