Canonical Allele Identifier: CA8424596
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2056120
ClinVar RCV Id: RCV002938393
dbSNP Id: rs111948619
ExAC: 17:18049397 C / T
gnomAD v2: 17-18049397-C-T
gnomAD v3: 17-18146083-C-T
gnomAD v4: 17-18146083-C-T
MyVariant Identifiers: chr17:g.18049397C>T (hg19) chr17:g.18146083C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146083C>T , CM000679.2:g.18146083C>T GRCh38
NC_000017.10:g.18049397C>T , CM000679.1:g.18049397C>T GRCh37
NC_000017.9:g.17990122C>T NCBI36
NG_011634.1:g.42378C>T
NG_011634.2:g.42378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6485C>T MANE Select ENSP00000495481.1:p.Pro2162Leu
ENST00000205890.9:c.6485C>T ENSP00000205890.5:p.Pro2162Leu
ENST00000578999.1:n.70C>T
ENST00000615845.4:c.6485C>T ENSP00000481642.1:p.Pro2162Leu
NM_016239.3:c.6485C>T NP_057323.3:p.Pro2162Leu
XM_011523917.1:c.6425C>T XP_011522219.1:p.Pro2142Leu
XM_011523918.1:c.6342+83C>T XP_011522220.1:n.6342+83C>T
XM_011523921.1:c.6479C>T XP_011522223.1:p.Pro2160Leu
XR_934037.1:n.7084C>T
XR_934038.1:n.7084C>T
XM_011523918.2:c.6342+83C>T XP_011522220.1:n.6342+83C>T
XM_017024714.2:c.6425C>T XP_016880203.1:p.Pro2142Leu
XM_017024715.2:c.6488C>T XP_016880204.1:p.Pro2163Leu
XM_024450781.1:c.6213+1491C>T XP_024306549.1:n.6213+1491C>T
NM_016239.4:c.6485C>T MANE Select NP_057323.3:p.Pro2162Leu
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