Canonical Allele Identifier: CA8425412

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 504634
• ClinVar RCV Id: RCV000600214
• dbSNP Id: rs368760461
• ExAC: 17:18062592 C / G
• gnomAD v2: 17-18062592-C-G
• gnomAD v3: 17-18159278-C-G
• gnomAD v4: 17-18159278-C-G
• MyVariant Identifiers: chr17:g.18062592C>G (hg19) ; chr17:g.18159278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159278C>G , CM000679.2:g.18159278C>G	GRCh38
NC_000017.10:g.18062592C>G , CM000679.1:g.18062592C>G	GRCh37
NC_000017.9:g.18003317C>G	NCBI36
NG_011634.1:g.55573C>G
NG_011634.2:g.55573C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642418.1:n.1498C>G
ENST00000643693.1:n.962C>G
ENST00000644795.1:c.952C>G	ENSP00000495720.1:p.Pro318Ala
ENST00000646782.1:n.1894C>G
ENST00000647165.2:c.9160C>G MANE Select	ENSP00000495481.1:p.Pro3054Ala
ENST00000651214.1:n.1665C>G
ENST00000205890.9:c.9160C>G	ENSP00000205890.5:p.Pro3054Ala
ENST00000418233.7:c.952C>G	ENSP00000408800.3:p.Pro318Ala
ENST00000433411.7:n.97C>G
ENST00000445289.6:n.316+1378C>G
ENST00000556535.5:c.22C>G	ENSP00000451782.1:p.Pro8Ala
ENST00000557190.5:n.62C>G
ENST00000557655.5:c.22C>G	ENSP00000451925.1:p.Pro8Ala
ENST00000578472.5:c.22C>G	ENSP00000467989.1:p.Pro8Ala
ENST00000615845.4:c.9160C>G	ENSP00000481642.1:p.Pro3054Ala
NM_016239.3:c.9160C>G	NP_057323.3:p.Pro3054Ala
XM_011523921.1:c.9154C>G	XP_011522223.1:p.Pro3052Ala
XM_017024714.2:c.9100C>G	XP_016880203.1:p.Pro3034Ala
XM_017024715.2:c.9163C>G	XP_016880204.1:p.Pro3055Ala
NM_016239.4:c.9160C>G MANE Select	NP_057323.3:p.Pro3054Ala