Canonical Allele Identifier: CA381937457

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77212952C>T , CM000673.2:g.77212952C>T	GRCh38
NC_000011.9:g.76923997C>T , CM000673.1:g.76923997C>T	GRCh37
NC_000011.8:g.76601645C>T	NCBI36
NG_009086.1:g.89688C>T
NG_009086.2:g.89707C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6355C>T MANE Select	NP_000251.3:p.Gln2119Ter
ENST00000409709.9:c.6355C>T MANE Select	ENSP00000386331.3:p.Gln2119Ter
NM_000260.3:c.6355C>T	NP_000251.3:p.Gln2119Ter
NM_001127180.1:c.6235C>T	NP_001120652.1:p.Gln2079Ter
NM_001127180.2:c.6235C>T	NP_001120652.1:p.Gln2079Ter
NM_001369365.1:c.6208C>T	NP_001356294.1:p.Gln2070Ter
ENST00000409619.6:c.6208C>T	ENSP00000386635.2:p.Gln2070Ter
ENST00000409709.7:c.6355C>T	ENSP00000386331.3:p.Gln2119Ter
ENST00000458169.2:c.3781C>T	ENSP00000417017.2:p.Gln1261Ter
ENST00000458637.6:c.6235C>T	ENSP00000392185.2:p.Gln2079Ter
ENST00000481328.7:n.4905C>T
ENST00000481532.1:n.418C>T
ENST00000526863.2:n.433C>T
ENST00000605744.1:n.1869C>T
ENST00000670577.1:c.4156C>T
XM_005274012.2:c.6238C>T	XP_005274069.1:p.Gln2080Ter
XM_006718561.2:c.6241C>T	XP_006718624.1:p.Gln2081Ter
XM_011545051.1:c.*27C>T	XP_011543353.1:n.*27C>T
XM_017017780.1:c.6445C>T	XP_016873269.1:p.Gln2149Ter
XM_017017784.1:c.6328C>T	XP_016873273.1:p.Gln2110Ter
XM_017017786.1:c.*27C>T	XP_016873275.1:n.*27C>T
XM_017017788.1:c.6331C>T	XP_016873277.1:p.Gln2111Ter
XR_001747885.1:n.6434C>T
XR_001747887.1:n.6420C>T
XR_949941.1:n.6649C>T