Canonical Allele Identifier: CA352498022

Gene: MYL3

Linked Data

• ClinVar Variation Id: 1794172
• ClinVar RCV Id: RCV002452969
• MyVariant Identifiers: chr3:g.46902210G>A (hg19) ; chr3:g.46860720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860720G>A , CM000665.2:g.46860720G>A	GRCh38
NC_000003.11:g.46902210G>A , CM000665.1:g.46902210G>A	GRCh37
NC_000003.10:g.46877214G>A	NCBI36
NG_007555.2:g.26450C>T , LRG_395:g.26450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.263C>T	ENSP00000393455.2:p.Thr88Ile
ENST00000292327.6:c.263C>T MANE Select	ENSP00000292327.4:p.Thr88Ile
ENST00000653454.1:c.263C>T	ENSP00000499624.1:p.Thr88Ile
ENST00000654597.1:c.263C>T	ENSP00000499406.1:p.Thr88Ile
ENST00000655244.1:n.485C>T
ENST00000662933.1:c.263C>T	ENSP00000499577.1:p.Thr88Ile
ENST00000664891.1:n.221C>T
ENST00000292327.4:c.263C>T	ENSP00000292327.4:p.Thr88Ile
ENST00000395869.5:c.263C>T	ENSP00000379210.1:p.Thr88Ile
NM_000258.2:c.263C>T , LRG_395t1:c.263C>T	NP_000249.1:p.Thr88Ile
NM_000258.3:c.263C>T MANE Select	NP_000249.1:p.Thr88Ile