Canonical Allele Identifier: CA381935823
Gene: MYO7A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211223C>G , CM000673.2:g.77211223C>G GRCh38
NC_000011.9:g.76922268C>G , CM000673.1:g.76922268C>G GRCh37
NC_000011.8:g.76599916C>G NCBI36
NG_009086.1:g.87959C>G
NG_009086.2:g.87978C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.6123C>G MANE Select ENSP00000386331.3:p.Ile2041Met
ENST00000670577.1:c.3924C>G
ENST00000409619.6:c.5976C>G ENSP00000386635.2:p.Ile1992Met
ENST00000409709.7:c.6123C>G ENSP00000386331.3:p.Ile2041Met
ENST00000458169.2:c.3549C>G ENSP00000417017.2:p.Ile1183Met
ENST00000458637.6:c.6009C>G ENSP00000392185.2:p.Ile2003Met
ENST00000481328.7:n.3659C>G
ENST00000526863.2:n.25+312C>G
ENST00000605744.1:n.1590C>G
NM_000260.3:c.6123C>G NP_000251.3:p.Ile2041Met
NM_001127180.1:c.6009C>G NP_001120652.1:p.Ile2003Met
XM_005274012.2:c.6006C>G XP_005274069.1:p.Ile2002Met
XM_006718558.2:c.6114C>G XP_006718621.1:p.Ile2038Met
XM_006718559.2:c.6009C>G XP_006718622.1:p.Ile2003Met
XM_006718560.2:c.6006C>G XP_006718623.1:p.Ile2002Met
XM_006718561.2:c.6009C>G XP_006718624.1:p.Ile2003Met
XM_011545044.1:c.6123C>G XP_011543346.1:p.Ile2041Met
XM_011545045.1:c.6117C>G XP_011543347.1:p.Ile2039Met
XM_011545046.1:c.6090C>G XP_011543348.1:p.Ile2030Met
XM_011545047.1:c.6027C>G XP_011543349.1:p.Ile2009Met
XM_011545048.1:c.5898C>G XP_011543350.1:p.Ile1966Met
XM_011545049.1:c.5886C>G XP_011543351.1:p.Ile1962Met
XM_011545050.1:c.5859C>G XP_011543352.1:p.Ile1953Met
XM_011545051.1:c.6123C>G XP_011543353.1:p.Ile2041Met
XR_949938.1:n.6443C>G
XR_949941.1:n.6417C>G
XM_011545044.2:c.6123C>G XP_011543346.1:p.Ile2041Met
XM_011545046.2:c.6213C>G XP_011543348.2:p.Ile2071Met
XM_011545050.2:c.5859C>G XP_011543352.1:p.Ile1953Met
XM_017017778.1:c.6207C>G XP_016873267.1:p.Ile2069Met
XM_017017779.1:c.6204C>G XP_016873268.1:p.Ile2068Met
XM_017017780.1:c.6213C>G XP_016873269.1:p.Ile2071Met
XM_017017781.1:c.6117C>G XP_016873270.1:p.Ile2039Met
XM_017017782.1:c.6099C>G XP_016873271.1:p.Ile2033Met
XM_017017783.1:c.6096C>G XP_016873272.1:p.Ile2032Met
XM_017017784.1:c.6096C>G XP_016873273.1:p.Ile2032Met
XM_017017785.1:c.5976C>G XP_016873274.1:p.Ile1992Met
XM_017017786.1:c.6213C>G XP_016873275.1:p.Ile2071Met
XM_017017788.1:c.6099C>G XP_016873277.1:p.Ile2033Met
XR_001747885.1:n.6202C>G
XR_001747886.1:n.6143C>G
XR_001747887.1:n.6188C>G
NM_000260.4:c.6123C>G MANE Select NP_000251.3:p.Ile2041Met
NM_001127180.2:c.6009C>G NP_001120652.1:p.Ile2003Met
NM_001369365.1:c.5976C>G NP_001356294.1:p.Ile1992Met