Canonical Allele Identifier: CA224830907
Community Standard Title: NM_000260.4(MYO7A):c.*416C>T
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77215112C>T , CM000673.2:g.77215112C>T GRCh38
NC_000011.9:g.76926157C>T , CM000673.1:g.76926157C>T GRCh37
NC_000011.8:g.76603805C>T NCBI36
NG_009086.1:g.91848C>T
NG_009086.2:g.91867C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.*416C>T MANE Select NP_000251.3:n.*416C>T
ENST00000409709.9:c.*416C>T MANE Select ENSP00000386331.3:n.*416C>T
NM_000260.3:c.*416C>T NP_000251.3:n.*416C>T
NM_001127180.1:c.*416C>T NP_001120652.1:n.*416C>T
NM_001127180.2:c.*416C>T NP_001120652.1:n.*416C>T
NM_001369365.1:c.*416C>T NP_001356294.1:n.*416C>T
ENST00000409709.7:c.*416C>T ENSP00000386331.3:n.*416C>T
ENST00000458169.2:c.4490C>T ENSP00000417017.2:n.4490C>T
ENST00000458637.6:c.*416C>T ENSP00000392185.2:n.*416C>T
ENST00000481328.7:n.5614C>T
ENST00000605744.1:n.2578C>T
ENST00000670577.1:c.4865C>T
XM_005274012.2:c.*416C>T XP_005274069.1:n.*416C>T
XM_006718561.2:c.*416C>T XP_006718624.1:n.*416C>T
XM_017017780.1:c.*416C>T XP_016873269.1:n.*416C>T
XM_017017784.1:c.*416C>T XP_016873273.1:n.*416C>T
XM_017017788.1:c.*416C>T XP_016873277.1:n.*416C>T
XR_001747885.1:n.7143C>T
XR_001747887.1:n.7129C>T
XR_949941.1:n.7358C>T