Canonical Allele Identifier: CA6199098

Gene: MYO7A

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77213930C>T , CM000673.2:g.77213930C>T	GRCh38
NC_000011.9:g.76924975C>T , CM000673.1:g.76924975C>T	GRCh37
NC_000011.8:g.76602623C>T	NCBI36
NG_009086.1:g.90666C>T
NG_009086.2:g.90685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6509C>T MANE Select	ENSP00000386331.3:p.Thr2170Ile
ENST00000670577.1:c.4310C>T
ENST00000409619.6:c.6362C>T	ENSP00000386635.2:p.Thr2121Ile
ENST00000409709.7:c.6509C>T	ENSP00000386331.3:p.Thr2170Ile
ENST00000458169.2:c.3935C>T	ENSP00000417017.2:p.Thr1312Ile
ENST00000458637.6:c.6389C>T	ENSP00000392185.2:p.Thr2130Ile
ENST00000481328.7:n.5059C>T
ENST00000605744.1:n.2023C>T
NM_000260.3:c.6509C>T	NP_000251.3:p.Thr2170Ile
NM_001127180.1:c.6389C>T	NP_001120652.1:p.Thr2130Ile
XM_005274012.2:c.6392C>T	XP_005274069.1:p.Thr2131Ile
XM_006718561.2:c.6395C>T	XP_006718624.1:p.Thr2132Ile
XR_949941.1:n.6803C>T
XM_017017780.1:c.6599C>T	XP_016873269.1:p.Thr2200Ile
XM_017017784.1:c.6482C>T	XP_016873273.1:p.Thr2161Ile
XM_017017788.1:c.6485C>T	XP_016873277.1:p.Thr2162Ile
XR_001747885.1:n.6588C>T
XR_001747887.1:n.6574C>T
NM_000260.4:c.6509C>T MANE Select	NP_000251.3:p.Thr2170Ile
NM_001127180.2:c.6389C>T	NP_001120652.1:p.Thr2130Ile
NM_001369365.1:c.6362C>T	NP_001356294.1:p.Thr2121Ile