Canonical Allele Identifier: CA288408624

Gene: MYO15A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18148108C>A , CM000679.2:g.18148108C>A	GRCh38
NC_000017.10:g.18051422C>A , CM000679.1:g.18051422C>A	GRCh37
NC_000017.9:g.17992147C>A	NCBI36
NG_011634.1:g.44403C>A
NG_011634.2:g.44403C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6589C>A MANE Select	ENSP00000495481.1:p.Gln2197Lys
ENST00000205890.9:c.6589C>A	ENSP00000205890.5:p.Gln2197Lys
ENST00000578999.1:n.174C>A
ENST00000615845.4:c.6589C>A	ENSP00000481642.1:p.Gln2197Lys
NM_016239.3:c.6589C>A	NP_057323.3:p.Gln2197Lys
XM_011523917.1:c.6529C>A	XP_011522219.1:p.Gln2177Lys
XM_011523918.1:c.*68C>A	XP_011522220.1:n.*68C>A
XM_011523921.1:c.6583C>A	XP_011522223.1:p.Gln2195Lys
XR_934037.1:n.7188C>A
XR_934038.1:n.7188C>A
XR_934293.1:n.435-502G>T
XR_934295.1:n.254-502G>T
XM_011523918.2:c.*68C>A	XP_011522220.1:n.*68C>A
XM_017024714.2:c.6529C>A	XP_016880203.1:p.Gln2177Lys
XM_017024715.2:c.6592C>A	XP_016880204.1:p.Gln2198Lys
XM_024450781.1:c.*68C>A	XP_024306549.1:n.*68C>A
XR_934293.2:n.378-502G>T
NM_016239.4:c.6589C>A MANE Select	NP_057323.3:p.Gln2197Lys