Canonical Allele Identifier: CA6196971
Community Standard Title: NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
Gene: MYO7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77130637G>A , CM000673.2:g.77130637G>A GRCh38
NC_000011.9:g.76841683G>A , CM000673.1:g.76841683G>A GRCh37
NC_000011.8:g.76519331G>A NCBI36
NG_009086.1:g.7374G>A
NG_009086.2:g.7392G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000260.4:c.3G>A MANE Select NP_000251.3:p.Met1Ile
ENST00000409709.9:c.3G>A MANE Select ENSP00000386331.3:p.Met1Ile
NM_000260.3:c.3G>A NP_000251.3:p.Met1Ile
NM_001127179.2:c.3G>A NP_001120651.2:p.Met1Ile
NM_001127180.1:c.3G>A NP_001120652.1:p.Met1Ile
NM_001127180.2:c.3G>A NP_001120652.1:p.Met1Ile
NM_001369365.1:c.-111G>A NP_001356294.1:n.-111G>A
ENST00000409619.6:c.-111G>A ENSP00000386635.2:n.-111G>A
ENST00000409709.7:c.3G>A ENSP00000386331.3:p.Met1Ile
ENST00000409893.5:c.3G>A ENSP00000386689.1:p.Met1Ile
ENST00000458637.6:c.3G>A ENSP00000392185.2:p.Met1Ile
ENST00000620575.4:c.3G>A ENSP00000477640.1:p.Met1Ile
XM_005274012.2:c.3G>A XP_005274069.1:p.Met1Ile
XM_006718558.2:c.3G>A XP_006718621.1:p.Met1Ile
XM_006718559.2:c.3G>A XP_006718622.1:p.Met1Ile
XM_006718560.2:c.3G>A XP_006718623.1:p.Met1Ile
XM_006718561.2:c.3G>A XP_006718624.1:p.Met1Ile
XM_011545044.1:c.3G>A XP_011543346.1:p.Met1Ile
XM_011545044.2:c.3G>A XP_011543346.1:p.Met1Ile
XM_011545045.1:c.3G>A XP_011543347.1:p.Met1Ile
XM_011545047.1:c.3G>A XP_011543349.1:p.Met1Ile
XM_011545048.1:c.3G>A XP_011543350.1:p.Met1Ile
XM_011545049.1:c.3G>A XP_011543351.1:p.Met1Ile
XM_011545051.1:c.3G>A XP_011543353.1:p.Met1Ile
XM_011545052.1:c.3G>A XP_011543354.1:p.Met1Ile
XR_949938.1:n.323G>A
XR_949941.1:n.323G>A
XR_949942.1:n.325G>A
XR_949943.1:n.325G>A