Canonical Allele Identifier: CA381937566

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213000A>T , CM000673.2:g.77213000A>T	GRCh38
NC_000011.9:g.76924045A>T , CM000673.1:g.76924045A>T	GRCh37
NC_000011.8:g.76601693A>T	NCBI36
NG_009086.1:g.89736A>T
NG_009086.2:g.89755A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6403A>T MANE Select	ENSP00000386331.3:p.Lys2135Ter
ENST00000670577.1:c.4204A>T
ENST00000409619.6:c.6256A>T	ENSP00000386635.2:p.Lys2086Ter
ENST00000409709.7:c.6403A>T	ENSP00000386331.3:p.Lys2135Ter
ENST00000458169.2:c.3829A>T	ENSP00000417017.2:p.Lys1277Ter
ENST00000458637.6:c.6283A>T	ENSP00000392185.2:p.Lys2095Ter
ENST00000481328.7:n.4953A>T
ENST00000481532.1:n.466A>T
ENST00000605744.1:n.1917A>T
NM_000260.3:c.6403A>T	NP_000251.3:p.Lys2135Ter
NM_001127180.1:c.6283A>T	NP_001120652.1:p.Lys2095Ter
XM_005274012.2:c.6286A>T	XP_005274069.1:p.Lys2096Ter
XM_006718561.2:c.6289A>T	XP_006718624.1:p.Lys2097Ter
XM_011545051.1:c.*75A>T	XP_011543353.1:n.*75A>T
XR_949941.1:n.6697A>T
XM_017017780.1:c.6493A>T	XP_016873269.1:p.Lys2165Ter
XM_017017784.1:c.6376A>T	XP_016873273.1:p.Lys2126Ter
XM_017017786.1:c.*75A>T	XP_016873275.1:n.*75A>T
XM_017017788.1:c.6379A>T	XP_016873277.1:p.Lys2127Ter
XR_001747885.1:n.6482A>T
XR_001747887.1:n.6468A>T
NM_000260.4:c.6403A>T MANE Select	NP_000251.3:p.Lys2135Ter
NM_001127180.2:c.6283A>T	NP_001120652.1:p.Lys2095Ter
NM_001369365.1:c.6256A>T	NP_001356294.1:p.Lys2086Ter