Canonical Allele Identifier: CA398617281

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18053765T>C (hg19) ; chr17:g.18150451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150451T>C , CM000679.2:g.18150451T>C	GRCh38
NC_000017.10:g.18053765T>C , CM000679.1:g.18053765T>C	GRCh37
NC_000017.9:g.17994490T>C	NCBI36
NG_011634.1:g.46746T>C
NG_011634.2:g.46746T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7235T>C MANE Select	ENSP00000495481.1:p.Ile2412Thr
ENST00000205890.9:c.7235T>C	ENSP00000205890.5:p.Ile2412Thr
ENST00000615845.4:c.7235T>C	ENSP00000481642.1:p.Ile2412Thr
NM_016239.3:c.7235T>C	NP_057323.3:p.Ile2412Thr
XM_011523917.1:c.6910T>C	XP_011522219.1:p.Leu2304=
XM_011523921.1:c.7229T>C	XP_011522223.1:p.Ile2410Thr
XR_934037.1:n.7569T>C
XR_934038.1:n.7521T>C
XR_934293.1:n.434+1152A>G
XR_934294.1:n.435-678A>G
XR_934295.1:n.253+1152A>G
XM_017024714.2:c.7175T>C	XP_016880203.1:p.Ile2392Thr
XM_017024715.2:c.7238T>C	XP_016880204.1:p.Ile2413Thr
XR_934293.2:n.377+1152A>G
XR_934294.2:n.378-678A>G
NM_016239.4:c.7235T>C MANE Select	NP_057323.3:p.Ile2412Thr