Canonical Allele Identifier: CA398588995

Gene: MYO15A

Linked Data

• dbSNP Id: rs1181900452
• gnomAD v2: 17-18027803-T-C
• gnomAD v4: 17-18124489-T-C
• MyVariant Identifiers: chr17:g.18027803T>C (hg19) ; chr17:g.18124489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18124489T>C , CM000679.2:g.18124489T>C	GRCh38
NC_000017.10:g.18027803T>C , CM000679.1:g.18027803T>C	GRCh37
NC_000017.9:g.17968528T>C	NCBI36
NG_011634.1:g.20784T>C
NG_011634.2:g.20784T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.3616T>C MANE Select	ENSP00000495481.1:p.Ser1206Pro
ENST00000651088.1:c.157T>C	ENSP00000498988.1:p.Ser53Pro
ENST00000205890.9:c.3616T>C	ENSP00000205890.5:p.Ser1206Pro
ENST00000583079.1:n.5322T>C
ENST00000615845.4:c.3616T>C	ENSP00000481642.1:p.Ser1206Pro
NM_016239.3:c.3616T>C	NP_057323.3:p.Ser1206Pro
XM_011523917.1:c.3616T>C	XP_011522219.1:p.Ser1206Pro
XM_011523918.1:c.3616T>C	XP_011522220.1:p.Ser1206Pro
XM_011523919.1:c.3616T>C	XP_011522221.1:p.Ser1206Pro
XM_011523920.1:c.3616T>C	XP_011522222.1:p.Ser1206Pro
XM_011523921.1:c.3616T>C	XP_011522223.1:p.Ser1206Pro
XR_934037.1:n.4275T>C
XR_934038.1:n.4275T>C
XR_934039.1:n.4275T>C
XM_011523918.2:c.3616T>C	XP_011522220.1:p.Ser1206Pro
XM_017024714.2:c.3616T>C	XP_016880203.1:p.Ser1206Pro
XM_017024715.2:c.3616T>C	XP_016880204.1:p.Ser1206Pro
XM_024450780.1:c.3616T>C	XP_024306548.1:p.Ser1206Pro
XM_024450781.1:c.3616T>C	XP_024306549.1:p.Ser1206Pro
XM_024450782.1:c.3616T>C	XP_024306550.1:p.Ser1206Pro
XR_934039.2:n.4314T>C
NM_016239.4:c.3616T>C MANE Select	NP_057323.3:p.Ser1206Pro