Canonical Allele Identifier: CA398154244

Gene: MYH3

Linked Data

• ClinVar Variation Id: 2841989
• ClinVar RCV Id: RCV003721268
• MyVariant Identifiers: chr17:g.10542401G>T (hg19) ; chr17:g.10639084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10639084G>T , CM000679.2:g.10639084G>T	GRCh38
NC_000017.10:g.10542401G>T , CM000679.1:g.10542401G>T	GRCh37
NC_000017.9:g.10483126G>T	NCBI36
NG_011537.1:g.23215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583535.6:c.3208C>A MANE Select	ENSP00000464317.1:p.Leu1070Met
ENST00000583535.5:c.3208C>A	ENSP00000464317.1:p.Leu1070Met
NM_002470.3:c.3208C>A	NP_002461.2:p.Leu1070Met
XM_011523870.1:c.3208C>A	XP_011522172.1:p.Leu1070Met
XM_011523871.1:c.3208C>A	XP_011522173.1:p.Leu1070Met
XM_011523872.1:c.3208C>A	XP_011522174.1:p.Leu1070Met
XM_011523870.3:c.3208C>A	XP_011522172.1:p.Leu1070Met
XM_011523871.2:c.3208C>A	XP_011522173.1:p.Leu1070Met
NM_002470.4:c.3208C>A MANE Select	NP_002461.2:p.Leu1070Met