Canonical Allele Identifier: CA254013

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 6950
• ClinVar RCV Id: RCV000007365 ; RCV002228014 ; RCV003555955
• dbSNP Id: rs121908965
• MyVariant Identifiers: chr17:g.18049249A>T (hg19) ; chr17:g.18145935A>T (hg38)
• ERepo: CA254013/MONDO:0019497/005
• PubMed: PMID:7704031 ; PMID:9603736

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145935A>T , CM000679.2:g.18145935A>T	GRCh38
NC_000017.10:g.18049249A>T , CM000679.1:g.18049249A>T	GRCh37
NC_000017.9:g.17989974A>T	NCBI36
NG_011634.1:g.42230A>T
NG_011634.2:g.42230A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6337A>T MANE Select	ENSP00000495481.1:p.Ile2113Phe
ENST00000205890.9:c.6337A>T	ENSP00000205890.5:p.Ile2113Phe
ENST00000615845.4:c.6337A>T	ENSP00000481642.1:p.Ile2113Phe
NM_016239.3:c.6337A>T	NP_057323.3:p.Ile2113Phe
XM_011523917.1:c.6277A>T	XP_011522219.1:p.Ile2093Phe
XM_011523918.1:c.6277A>T	XP_011522220.1:p.Ile2093Phe
XM_011523921.1:c.6331A>T	XP_011522223.1:p.Ile2111Phe
XR_934037.1:n.6936A>T
XR_934038.1:n.6936A>T
XM_011523918.2:c.6277A>T	XP_011522220.1:p.Ile2093Phe
XM_017024714.2:c.6277A>T	XP_016880203.1:p.Ile2093Phe
XM_017024715.2:c.6340A>T	XP_016880204.1:p.Ile2114Phe
XM_024450781.1:c.6213+1343A>T	XP_024306549.1:n.6213+1343A>T
NM_016239.4:c.6337A>T MANE Select	NP_057323.3:p.Ile2113Phe