Canonical Allele Identifier: CA398617303

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18053768C>T (hg19) ; chr17:g.18150454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150454C>T , CM000679.2:g.18150454C>T	GRCh38
NC_000017.10:g.18053768C>T , CM000679.1:g.18053768C>T	GRCh37
NC_000017.9:g.17994493C>T	NCBI36
NG_011634.1:g.46749C>T
NG_011634.2:g.46749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.7238C>T MANE Select	ENSP00000495481.1:p.Ala2413Val
ENST00000205890.9:c.7238C>T	ENSP00000205890.5:p.Ala2413Val
ENST00000615845.4:c.7238C>T	ENSP00000481642.1:p.Ala2413Val
NM_016239.3:c.7238C>T	NP_057323.3:p.Ala2413Val
XM_011523917.1:c.6913C>T	XP_011522219.1:p.Pro2305Ser
XM_011523921.1:c.7232C>T	XP_011522223.1:p.Ala2411Val
XR_934037.1:n.7572C>T
XR_934038.1:n.7524C>T
XR_934293.1:n.434+1149G>A
XR_934294.1:n.435-681G>A
XR_934295.1:n.253+1149G>A
XM_017024714.2:c.7178C>T	XP_016880203.1:p.Ala2393Val
XM_017024715.2:c.7241C>T	XP_016880204.1:p.Ala2414Val
XR_934293.2:n.377+1149G>A
XR_934294.2:n.378-681G>A
NM_016239.4:c.7238C>T MANE Select	NP_057323.3:p.Ala2413Val