Canonical Allele Identifier: CA398606616

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049260G>C (hg19) ; chr17:g.18145946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145946G>C , CM000679.2:g.18145946G>C	GRCh38
NC_000017.10:g.18049260G>C , CM000679.1:g.18049260G>C	GRCh37
NC_000017.9:g.17989985G>C	NCBI36
NG_011634.1:g.42241G>C
NG_011634.2:g.42241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6348G>C MANE Select	ENSP00000495481.1:p.Lys2116Asn
ENST00000205890.9:c.6348G>C	ENSP00000205890.5:p.Lys2116Asn
ENST00000615845.4:c.6348G>C	ENSP00000481642.1:p.Lys2116Asn
NM_016239.3:c.6348G>C	NP_057323.3:p.Lys2116Asn
XM_011523917.1:c.6288G>C	XP_011522219.1:p.Lys2096Asn
XM_011523918.1:c.6288G>C	XP_011522220.1:p.Lys2096Asn
XM_011523921.1:c.6342G>C	XP_011522223.1:p.Lys2114Asn
XR_934037.1:n.6947G>C
XR_934038.1:n.6947G>C
XM_011523918.2:c.6288G>C	XP_011522220.1:p.Lys2096Asn
XM_017024714.2:c.6288G>C	XP_016880203.1:p.Lys2096Asn
XM_017024715.2:c.6351G>C	XP_016880204.1:p.Lys2117Asn
XM_024450781.1:c.6213+1354G>C	XP_024306549.1:n.6213+1354G>C
NM_016239.4:c.6348G>C MANE Select	NP_057323.3:p.Lys2116Asn