Canonical Allele Identifier: CA398617258

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18053762C>T (hg19) ; chr17:g.18150448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150448C>T , CM000679.2:g.18150448C>T	GRCh38
NC_000017.10:g.18053762C>T , CM000679.1:g.18053762C>T	GRCh37
NC_000017.9:g.17994487C>T	NCBI36
NG_011634.1:g.46743C>T
NG_011634.2:g.46743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7232C>T MANE Select	ENSP00000495481.1:p.Ala2411Val
ENST00000205890.9:c.7232C>T	ENSP00000205890.5:p.Ala2411Val
ENST00000615845.4:c.7232C>T	ENSP00000481642.1:p.Ala2411Val
NM_016239.3:c.7232C>T	NP_057323.3:p.Ala2411Val
XM_011523917.1:c.6907C>T	XP_011522219.1:p.Pro2303Ser
XM_011523921.1:c.7226C>T	XP_011522223.1:p.Ala2409Val
XR_934037.1:n.7566C>T
XR_934038.1:n.7518C>T
XR_934293.1:n.434+1155G>A
XR_934294.1:n.435-675G>A
XR_934295.1:n.253+1155G>A
XM_017024714.2:c.7172C>T	XP_016880203.1:p.Ala2391Val
XM_017024715.2:c.7235C>T	XP_016880204.1:p.Ala2412Val
XR_934293.2:n.377+1155G>A
XR_934294.2:n.378-675G>A
NM_016239.4:c.7232C>T MANE Select	NP_057323.3:p.Ala2411Val