Canonical Allele Identifier: CA398606567

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049249A>C (hg19) ; chr17:g.18145935A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6337A>C MANE Select	ENSP00000495481.1:p.Ile2113Leu
ENST00000205890.9:c.6337A>C	ENSP00000205890.5:p.Ile2113Leu
ENST00000615845.4:c.6337A>C	ENSP00000481642.1:p.Ile2113Leu
NM_016239.3:c.6337A>C	NP_057323.3:p.Ile2113Leu
XM_011523917.1:c.6277A>C	XP_011522219.1:p.Ile2093Leu
XM_011523918.1:c.6277A>C	XP_011522220.1:p.Ile2093Leu
XM_011523921.1:c.6331A>C	XP_011522223.1:p.Ile2111Leu
XR_934037.1:n.6936A>C
XR_934038.1:n.6936A>C
XM_011523918.2:c.6277A>C	XP_011522220.1:p.Ile2093Leu
XM_017024714.2:c.6277A>C	XP_016880203.1:p.Ile2093Leu
XM_017024715.2:c.6340A>C	XP_016880204.1:p.Ile2114Leu
XM_024450781.1:c.6213+1343A>C	XP_024306549.1:n.6213+1343A>C
NM_016239.4:c.6337A>C MANE Select	NP_057323.3:p.Ile2113Leu