Canonical Allele Identifier: CA352495476

Gene: MYL3

Linked Data

• ClinVar Variation Id: 580400
• ClinVar RCV Id: RCV000703925 ; RCV001555473 ; RCV002334375
• dbSNP Id: rs730880962
• MyVariant Identifiers: chr3:g.46899915A>G (hg19) ; chr3:g.46858425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46858425A>G , CM000665.2:g.46858425A>G	GRCh38
NC_000003.11:g.46899915A>G , CM000665.1:g.46899915A>G	GRCh37
NC_000003.10:g.46874919A>G	NCBI36
NG_007555.2:g.28745T>C , LRG_395:g.28745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.518T>C	ENSP00000393455.2:p.Met173Thr
ENST00000292327.6:c.518T>C MANE Select	ENSP00000292327.4:p.Met173Thr
ENST00000653454.1:c.518T>C	ENSP00000499624.1:p.Met173Thr
ENST00000654597.1:c.518T>C	ENSP00000499406.1:p.Met173Thr
ENST00000655244.1:n.725T>C
ENST00000662933.1:c.518T>C	ENSP00000499577.1:p.Met173Thr
ENST00000664891.1:n.476T>C
ENST00000292327.4:c.518T>C	ENSP00000292327.4:p.Met173Thr
ENST00000395869.5:c.518T>C	ENSP00000379210.1:p.Met173Thr
NM_000258.2:c.518T>C , LRG_395t1:c.518T>C	NP_000249.1:p.Met173Thr
NM_000258.3:c.518T>C MANE Select	NP_000249.1:p.Met173Thr