Canonical Allele Identifier: CA398577257

Gene: MYO15A

Linked Data

• gnomAD v4: 17-18119920-G-C
• MyVariant Identifiers: chr17:g.18023234G>C (hg19) ; chr17:g.18119920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18119920G>C , CM000679.2:g.18119920G>C	GRCh38
NC_000017.10:g.18023234G>C , CM000679.1:g.18023234G>C	GRCh37
NC_000017.9:g.17963959G>C	NCBI36
NG_011634.1:g.16215G>C
NG_011634.2:g.16215G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647165.2:c.1120G>C MANE Select	ENSP00000495481.1:p.Val374Leu
ENST00000205890.9:c.1120G>C	ENSP00000205890.5:p.Val374Leu
ENST00000583079.1:n.753G>C
ENST00000615845.4:c.1120G>C	ENSP00000481642.1:p.Val374Leu
NM_016239.3:c.1120G>C	NP_057323.3:p.Val374Leu
XM_011523917.1:c.1120G>C	XP_011522219.1:p.Val374Leu
XM_011523918.1:c.1120G>C	XP_011522220.1:p.Val374Leu
XM_011523919.1:c.1120G>C	XP_011522221.1:p.Val374Leu
XM_011523920.1:c.1120G>C	XP_011522222.1:p.Val374Leu
XM_011523921.1:c.1120G>C	XP_011522223.1:p.Val374Leu
XR_934037.1:n.1779G>C
XR_934038.1:n.1779G>C
XR_934039.1:n.1779G>C
XM_011523918.2:c.1120G>C	XP_011522220.1:p.Val374Leu
XM_017024714.2:c.1120G>C	XP_016880203.1:p.Val374Leu
XM_017024715.2:c.1120G>C	XP_016880204.1:p.Val374Leu
XM_024450780.1:c.1120G>C	XP_024306548.1:p.Val374Leu
XM_024450781.1:c.1120G>C	XP_024306549.1:p.Val374Leu
XM_024450782.1:c.1120G>C	XP_024306550.1:p.Val374Leu
XR_934039.2:n.1818G>C
NM_016239.4:c.1120G>C MANE Select	NP_057323.3:p.Val374Leu