Canonical Allele Identifier: CA352496581

Gene: MYL3

Linked Data

• ClinVar Variation Id: 2629895
• ClinVar RCV Id: RCV003391287
• MyVariant Identifiers: chr3:g.46901097T>G (hg19) ; chr3:g.46859607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859607T>G , CM000665.2:g.46859607T>G	GRCh38
NC_000003.11:g.46901097T>G , CM000665.1:g.46901097T>G	GRCh37
NC_000003.10:g.46876101T>G	NCBI36
NG_007555.2:g.27563A>C , LRG_395:g.27563A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.349A>C	ENSP00000393455.2:p.Met117Leu
ENST00000292327.6:c.349A>C MANE Select	ENSP00000292327.4:p.Met117Leu
ENST00000653454.1:c.349A>C	ENSP00000499624.1:p.Met117Leu
ENST00000654597.1:c.349A>C	ENSP00000499406.1:p.Met117Leu
ENST00000655244.1:n.571A>C
ENST00000662933.1:c.349A>C	ENSP00000499577.1:p.Met117Leu
ENST00000664891.1:n.307A>C
ENST00000292327.4:c.349A>C	ENSP00000292327.4:p.Met117Leu
ENST00000395869.5:c.349A>C	ENSP00000379210.1:p.Met117Leu
NM_000258.2:c.349A>C , LRG_395t1:c.349A>C	NP_000249.1:p.Met117Leu
NM_000258.3:c.349A>C MANE Select	NP_000249.1:p.Met117Leu