Canonical Allele Identifier: CA8423025

Gene: MYO15A

Linked Data

• dbSNP Id: rs756617440
• ExAC: 17:18023230 C / T
• gnomAD v2: 17-18023230-C-T
• gnomAD v4: 17-18119916-C-T
• MyVariant Identifiers: chr17:g.18023230C>T (hg19) ; chr17:g.18119916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18119916C>T , CM000679.2:g.18119916C>T	GRCh38
NC_000017.10:g.18023230C>T , CM000679.1:g.18023230C>T	GRCh37
NC_000017.9:g.17963955C>T	NCBI36
NG_011634.1:g.16211C>T
NG_011634.2:g.16211C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.1116C>T MANE Select	ENSP00000495481.1:p.Tyr372=
ENST00000205890.9:c.1116C>T	ENSP00000205890.5:p.Tyr372=
ENST00000583079.1:n.749C>T
ENST00000615845.4:c.1116C>T	ENSP00000481642.1:p.Tyr372=
NM_016239.3:c.1116C>T	NP_057323.3:p.Tyr372=
XM_011523917.1:c.1116C>T	XP_011522219.1:p.Tyr372=
XM_011523918.1:c.1116C>T	XP_011522220.1:p.Tyr372=
XM_011523919.1:c.1116C>T	XP_011522221.1:p.Tyr372=
XM_011523920.1:c.1116C>T	XP_011522222.1:p.Tyr372=
XM_011523921.1:c.1116C>T	XP_011522223.1:p.Tyr372=
XR_934037.1:n.1775C>T
XR_934038.1:n.1775C>T
XR_934039.1:n.1775C>T
XM_011523918.2:c.1116C>T	XP_011522220.1:p.Tyr372=
XM_017024714.2:c.1116C>T	XP_016880203.1:p.Tyr372=
XM_017024715.2:c.1116C>T	XP_016880204.1:p.Tyr372=
XM_024450780.1:c.1116C>T	XP_024306548.1:p.Tyr372=
XM_024450781.1:c.1116C>T	XP_024306549.1:p.Tyr372=
XM_024450782.1:c.1116C>T	XP_024306550.1:p.Tyr372=
XR_934039.2:n.1814C>T
NM_016239.4:c.1116C>T MANE Select	NP_057323.3:p.Tyr372=