Canonical Allele Identifier: CA8424747

Gene: MYO15A

Linked Data

• dbSNP Id: rs763553435
• ExAC: 17:18052802 T / C
• gnomAD v2: 17-18052802-T-C
• gnomAD v4: 17-18149488-T-C
• MyVariant Identifiers: chr17:g.18052802T>C (hg19) ; chr17:g.18052802_18052806delinsCCAGA (hg19) ; chr17:g.18149488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18149488T>C , CM000679.2:g.18149488T>C	GRCh38
NC_000017.10:g.18052802T>C , CM000679.1:g.18052802T>C	GRCh37
NC_000017.9:g.17993527T>C	NCBI36
NG_011634.1:g.45783T>C
NG_011634.2:g.45783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.7120T>C MANE Select	ENSP00000495481.1:p.Ser2374Pro
ENST00000205890.9:c.7120T>C	ENSP00000205890.5:p.Ser2374Pro
ENST00000578999.1:n.741T>C
ENST00000615845.4:c.7120T>C	ENSP00000481642.1:p.Ser2374Pro
NM_016239.3:c.7120T>C	NP_057323.3:p.Ser2374Pro
XM_011523917.1:c.6795T>C	XP_011522219.1:p.Ser2265=
XM_011523921.1:c.7114T>C	XP_011522223.1:p.Ser2372Pro
XR_934037.1:n.7454T>C
XR_934038.1:n.7406T>C
XR_934293.1:n.435-1882A>G
XR_934295.1:n.254-1882A>G
XM_017024714.2:c.7060T>C	XP_016880203.1:p.Ser2354Pro
XM_017024715.2:c.7123T>C	XP_016880204.1:p.Ser2375Pro
XR_934293.2:n.378-1882A>G
NM_016239.4:c.7120T>C MANE Select	NP_057323.3:p.Ser2374Pro