Canonical Allele Identifier: CA398614750

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2867868
• ClinVar RCV Id: RCV003703000
• MyVariant Identifiers: chr17:g.18052798A>C (hg19) ; chr17:g.18149484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149484A>C , CM000679.2:g.18149484A>C	GRCh38
NC_000017.10:g.18052798A>C , CM000679.1:g.18052798A>C	GRCh37
NC_000017.9:g.17993523A>C	NCBI36
NG_011634.1:g.45779A>C
NG_011634.2:g.45779A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7118-2A>C MANE Select	ENSP00000495481.1:n.7118-2A>C
ENST00000205890.9:c.7118-2A>C	ENSP00000205890.5:n.7118-2A>C
ENST00000578999.1:n.737A>C
ENST00000615845.4:c.7118-2A>C	ENSP00000481642.1:n.7118-2A>C
NM_016239.3:c.7118-2A>C	NP_057323.3:n.7118-2A>C
XM_011523917.1:c.6793-2A>C	XP_011522219.1:n.6793-2A>C
XM_011523921.1:c.7112-2A>C	XP_011522223.1:n.7112-2A>C
XR_934037.1:n.7452-2A>C
XR_934038.1:n.7404-2A>C
XR_934293.1:n.435-1878T>G
XR_934295.1:n.254-1878T>G
XM_017024714.2:c.7058-2A>C	XP_016880203.1:n.7058-2A>C
XM_017024715.2:c.7121-2A>C	XP_016880204.1:n.7121-2A>C
XR_934293.2:n.378-1878T>G
NM_016239.4:c.7118-2A>C MANE Select	NP_057323.3:n.7118-2A>C