Canonical Allele Identifier: CA398633760

Gene: MYO15A

Linked Data

• dbSNP Id: rs2046738551
• MyVariant Identifiers: chr17:g.18062608T>C (hg19) ; chr17:g.18159294T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159294T>C , CM000679.2:g.18159294T>C	GRCh38
NC_000017.10:g.18062608T>C , CM000679.1:g.18062608T>C	GRCh37
NC_000017.9:g.18003333T>C	NCBI36
NG_011634.1:g.55589T>C
NG_011634.2:g.55589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1514T>C
ENST00000643693.1:n.978T>C
ENST00000644795.1:c.968T>C	ENSP00000495720.1:p.Leu323Pro
ENST00000646782.1:n.1910T>C
ENST00000647165.2:c.9176T>C MANE Select	ENSP00000495481.1:p.Leu3059Pro
ENST00000651214.1:n.1681T>C
ENST00000205890.9:c.9176T>C	ENSP00000205890.5:p.Leu3059Pro
ENST00000418233.7:c.968T>C	ENSP00000408800.3:p.Leu323Pro
ENST00000433411.7:n.113T>C
ENST00000445289.6:n.316+1394T>C
ENST00000556535.5:c.38T>C	ENSP00000451782.1:p.Leu13Pro
ENST00000557190.5:n.78T>C
ENST00000557655.5:c.38T>C	ENSP00000451925.1:p.Leu13Pro
ENST00000578472.5:c.38T>C	ENSP00000467989.1:p.Leu13Pro
ENST00000615845.4:c.9176T>C	ENSP00000481642.1:p.Leu3059Pro
NM_016239.3:c.9176T>C	NP_057323.3:p.Leu3059Pro
XM_011523921.1:c.9170T>C	XP_011522223.1:p.Leu3057Pro
XM_017024714.2:c.9116T>C	XP_016880203.1:p.Leu3039Pro
XM_017024715.2:c.9179T>C	XP_016880204.1:p.Leu3060Pro
NM_016239.4:c.9176T>C MANE Select	NP_057323.3:p.Leu3059Pro