Canonical Allele Identifier: CA475792084
Gene: MYO7A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.76922382G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77211337G>C , CM000673.2:g.77211337G>C GRCh38
NC_000011.9:g.76922382G>C , CM000673.1:g.76922382G>C GRCh37
NC_000011.8:g.76600030G>C NCBI36
NG_009086.1:g.88073G>C
NG_009086.2:g.88092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409709.9:c.6237G>C MANE Select ENSP00000386331.3:p.Arg2079=
ENST00000670577.1:c.4038G>C
ENST00000409619.6:c.6090G>C ENSP00000386635.2:p.Arg2030=
ENST00000409709.7:c.6237G>C ENSP00000386331.3:p.Arg2079=
ENST00000458169.2:c.3663G>C ENSP00000417017.2:p.Arg1221=
ENST00000458637.6:c.6123G>C ENSP00000392185.2:p.Arg2041=
ENST00000481328.7:n.3773G>C
ENST00000526863.2:n.25+426G>C
ENST00000605744.1:n.1704G>C
NM_000260.3:c.6237G>C NP_000251.3:p.Arg2079=
NM_001127180.1:c.6123G>C NP_001120652.1:p.Arg2041=
XM_005274012.2:c.6120G>C XP_005274069.1:p.Arg2040=
XM_006718558.2:c.6228G>C XP_006718621.1:p.Arg2076=
XM_006718559.2:c.6123G>C XP_006718622.1:p.Arg2041=
XM_006718560.2:c.6120G>C XP_006718623.1:p.Arg2040=
XM_006718561.2:c.6123G>C XP_006718624.1:p.Arg2041=
XM_011545044.1:c.6237G>C XP_011543346.1:p.Arg2079=
XM_011545045.1:c.6231G>C XP_011543347.1:p.Arg2077=
XM_011545046.1:c.6204G>C XP_011543348.1:p.Arg2068=
XM_011545047.1:c.6141G>C XP_011543349.1:p.Arg2047=
XM_011545048.1:c.6012G>C XP_011543350.1:p.Arg2004=
XM_011545049.1:c.6000G>C XP_011543351.1:p.Arg2000=
XM_011545050.1:c.5973G>C XP_011543352.1:p.Arg1991=
XM_011545051.1:c.6237G>C XP_011543353.1:p.Arg2079=
XR_949938.1:n.6557G>C
XR_949941.1:n.6531G>C
XM_011545044.2:c.6237G>C XP_011543346.1:p.Arg2079=
XM_011545046.2:c.6327G>C XP_011543348.2:p.Arg2109=
XM_011545050.2:c.5973G>C XP_011543352.1:p.Arg1991=
XM_017017778.1:c.6321G>C XP_016873267.1:p.Arg2107=
XM_017017779.1:c.6318G>C XP_016873268.1:p.Arg2106=
XM_017017780.1:c.6327G>C XP_016873269.1:p.Arg2109=
XM_017017781.1:c.6231G>C XP_016873270.1:p.Arg2077=
XM_017017782.1:c.6213G>C XP_016873271.1:p.Arg2071=
XM_017017783.1:c.6210G>C XP_016873272.1:p.Arg2070=
XM_017017784.1:c.6210G>C XP_016873273.1:p.Arg2070=
XM_017017785.1:c.6090G>C XP_016873274.1:p.Arg2030=
XM_017017786.1:c.6327G>C XP_016873275.1:p.Arg2109=
XM_017017788.1:c.6213G>C XP_016873277.1:p.Arg2071=
XR_001747885.1:n.6316G>C
XR_001747887.1:n.6302G>C
NM_000260.4:c.6237G>C MANE Select NP_000251.3:p.Arg2079=
NM_001127180.2:c.6123G>C NP_001120652.1:p.Arg2041=
NM_001369365.1:c.6090G>C NP_001356294.1:p.Arg2030=