Canonical Allele Identifier: CA9158642
Community Standard Title: NM_012335.4(MYO1F):c.3188A>C (p.Asn1063Thr)
Gene: MYO1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8522409T>G , CM000681.2:g.8522409T>G GRCh38
NC_000019.9:g.8587293T>G , CM000681.1:g.8587293T>G GRCh37
NC_000019.8:g.8493293T>G NCBI36
NG_052844.1:g.60039A>C

Transcript Alleles

HGVS Amino-acid Change
NM_012335.4:c.3188A>C MANE Select NP_036467.2:p.Asn1063Thr
ENST00000644032.2:c.3188A>C MANE Select ENSP00000494550.1:p.Asn1063Thr
NM_001348355.1:c.3176A>C NP_001335284.1:p.Asn1059Thr
NM_001348355.2:c.3176A>C NP_001335284.1:p.Asn1059Thr
NM_012335.3:c.3188A>C NP_036467.2:p.Asn1063Thr
ENST00000338257.12:c.3188A>C ENSP00000344871.6:p.Asn1063Thr
ENST00000613525.4:c.3188A>C ENSP00000481682.1:p.Asn1063Thr
XM_011528024.1:c.3251A>C XP_011526326.1:p.Asn1084Thr
XM_011528024.2:c.3251A>C XP_011526326.1:p.Asn1084Thr
XM_011528025.1:c.3239A>C XP_011526327.1:p.Asn1080Thr
XM_011528025.2:c.3239A>C XP_011526327.1:p.Asn1080Thr
XM_011528026.1:c.3164A>C XP_011526328.1:p.Asn1055Thr
XM_011528026.2:c.3164A>C XP_011526328.1:p.Asn1055Thr
XM_011528027.1:c.3116A>C XP_011526329.1:p.Asn1039Thr
XM_011528027.2:c.3116A>C XP_011526329.1:p.Asn1039Thr
XM_024451522.1:c.2033A>C XP_024307290.1:p.Asn678Thr