Canonical Allele Identifier: CA398617225

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18053756C>T (hg19) ; chr17:g.18150442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18150442C>T , CM000679.2:g.18150442C>T	GRCh38
NC_000017.10:g.18053756C>T , CM000679.1:g.18053756C>T	GRCh37
NC_000017.9:g.17994481C>T	NCBI36
NG_011634.1:g.46737C>T
NG_011634.2:g.46737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7226C>T MANE Select	ENSP00000495481.1:p.Pro2409Leu
ENST00000205890.9:c.7226C>T	ENSP00000205890.5:p.Pro2409Leu
ENST00000615845.4:c.7226C>T	ENSP00000481642.1:p.Pro2409Leu
NM_016239.3:c.7226C>T	NP_057323.3:p.Pro2409Leu
XM_011523917.1:c.6901C>T	XP_011522219.1:p.Gln2301Ter
XM_011523921.1:c.7220C>T	XP_011522223.1:p.Pro2407Leu
XR_934037.1:n.7560C>T
XR_934038.1:n.7512C>T
XR_934293.1:n.434+1161G>A
XR_934294.1:n.435-669G>A
XR_934295.1:n.253+1161G>A
XM_017024714.2:c.7166C>T	XP_016880203.1:p.Pro2389Leu
XM_017024715.2:c.7229C>T	XP_016880204.1:p.Pro2410Leu
XR_934293.2:n.377+1161G>A
XR_934294.2:n.378-669G>A
NM_016239.4:c.7226C>T MANE Select	NP_057323.3:p.Pro2409Leu