Canonical Allele Identifier: CA467269099
Gene: DNM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130981336C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128219057C>T , CM000671.2:g.128219057C>T GRCh38
NC_000009.11:g.130981336C>T , CM000671.1:g.130981336C>T GRCh37
NC_000009.10:g.130021157C>T NCBI36
NG_029726.1:g.20674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706053.1:c.394C>T ENSP00000516205.1:p.Leu132=
ENST00000706054.1:c.29C>T
ENST00000372923.8:c.394C>T MANE Select ENSP00000362014.4:p.Leu132=
ENST00000634267.2:c.394C>T ENSP00000489096.1:p.Leu132=
ENST00000636280.1:c.394C>T ENSP00000490285.1:p.Leu132=
ENST00000637999.1:c.221C>T
ENST00000341179.11:c.394C>T ENSP00000345680.7:p.Leu132=
ENST00000372923.7:c.394C>T ENSP00000362014.3:p.Leu132=
ENST00000393594.7:c.394C>T ENSP00000377219.3:p.Leu132=
ENST00000441149.6:n.195C>T
ENST00000475805.5:c.394C>T ENSP00000419225.1:p.Leu132=
ENST00000486160.3:c.394C>T ENSP00000420045.1:p.Leu132=
ENST00000627061.2:c.394C>T ENSP00000486437.1:p.Leu132=
ENST00000627543.2:c.394C>T ENSP00000487310.1:p.Leu132=
ENST00000628346.2:c.394C>T ENSP00000486525.1:p.Leu132=
ENST00000634267.1:c.394C>T ENSP00000489096.1:p.Leu132=
NM_001005336.2:c.394C>T NP_001005336.1:p.Leu132=
NM_001288737.1:c.394C>T NP_001275666.1:p.Leu132=
NM_001288738.1:c.394C>T NP_001275667.1:p.Leu132=
NM_001288739.1:c.394C>T NP_001275668.1:p.Leu132=
NM_004408.3:c.394C>T NP_004399.2:p.Leu132=
XM_005251763.1:c.394C>T XP_005251820.1:p.Leu132=
XM_005251764.1:c.394C>T XP_005251821.1:p.Leu132=
XM_005251768.1:c.394C>T XP_005251825.1:p.Leu132=
XM_005251769.1:c.394C>T XP_005251826.1:p.Leu132=
XM_006716992.1:c.394C>T XP_006717055.1:p.Leu132=
XM_006716993.1:c.394C>T XP_006717056.1:p.Leu132=
XM_011518334.1:c.394C>T XP_011516636.1:p.Leu132=
XM_011518335.1:c.394C>T XP_011516637.1:p.Leu132=
XM_011518336.1:c.394C>T XP_011516638.1:p.Leu132=
XM_011518337.1:c.394C>T XP_011516639.1:p.Leu132=
XM_011518338.1:c.394C>T XP_011516640.1:p.Leu132=
XR_242572.1:n.510C>T
XR_242573.2:n.510C>T
XR_929729.1:n.510C>T
XR_929730.1:n.510C>T
XM_005251763.3:c.394C>T XP_005251820.1:p.Leu132=
XM_005251768.3:c.394C>T XP_005251825.1:p.Leu132=
XM_005251769.3:c.394C>T XP_005251826.1:p.Leu132=
XM_006716992.3:c.394C>T XP_006717055.1:p.Leu132=
XM_006716993.2:c.394C>T XP_006717056.1:p.Leu132=
XM_011518335.3:c.394C>T XP_011516637.1:p.Leu132=
XM_011518336.3:c.394C>T XP_011516638.1:p.Leu132=
XM_017014369.2:c.394C>T XP_016869858.1:p.Leu132=
XM_017014370.2:c.394C>T XP_016869859.1:p.Leu132=
XM_017014371.2:c.394C>T XP_016869860.1:p.Leu132=
XM_017014372.2:c.394C>T XP_016869861.1:p.Leu132=
XM_017014373.2:c.394C>T XP_016869862.1:p.Leu132=
XR_001746219.2:n.486C>T
XR_001746220.2:n.486C>T
XR_001746221.2:n.486C>T
XR_001746222.2:n.486C>T
NM_001005336.3:c.394C>T NP_001005336.1:p.Leu132=
NM_001288737.2:c.394C>T NP_001275666.1:p.Leu132=
NM_001288738.2:c.394C>T NP_001275667.1:p.Leu132=
NM_001288739.2:c.394C>T NP_001275668.1:p.Leu132=
NM_001374269.1:c.394C>T NP_001361198.1:p.Leu132=
NM_004408.4:c.394C>T MANE Select NP_004399.2:p.Leu132=