Canonical Allele Identifier: CA398607501
Gene: MYO15A HGNC NCBI

Linked Data

gnomAD v4: 17-18146104-T-C
MyVariant Identifiers: chr17:g.18049418T>C (hg19) chr17:g.18146104T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146104T>C , CM000679.2:g.18146104T>C GRCh38
NC_000017.10:g.18049418T>C , CM000679.1:g.18049418T>C GRCh37
NC_000017.9:g.17990143T>C NCBI36
NG_011634.1:g.42399T>C
NG_011634.2:g.42399T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6506T>C MANE Select ENSP00000495481.1:p.Leu2169Pro
ENST00000205890.9:c.6506T>C ENSP00000205890.5:p.Leu2169Pro
ENST00000578999.1:n.91T>C
ENST00000615845.4:c.6506T>C ENSP00000481642.1:p.Leu2169Pro
NM_016239.3:c.6506T>C NP_057323.3:p.Leu2169Pro
XM_011523917.1:c.6446T>C XP_011522219.1:p.Leu2149Pro
XM_011523918.1:c.6342+104T>C XP_011522220.1:n.6342+104T>C
XM_011523921.1:c.6500T>C XP_011522223.1:p.Leu2167Pro
XR_934037.1:n.7105T>C
XR_934038.1:n.7105T>C
XM_011523918.2:c.6342+104T>C XP_011522220.1:n.6342+104T>C
XM_017024714.2:c.6446T>C XP_016880203.1:p.Leu2149Pro
XM_017024715.2:c.6509T>C XP_016880204.1:p.Leu2170Pro
XM_024450781.1:c.6213+1512T>C XP_024306549.1:n.6213+1512T>C
NM_016239.4:c.6506T>C MANE Select NP_057323.3:p.Leu2169Pro
Search 100 bp 5'
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