Canonical Allele Identifier: CA381939561

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925739T>G (hg19) ; chr11:g.77214694T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214694T>G , CM000673.2:g.77214694T>G	GRCh38
NC_000011.9:g.76925739T>G , CM000673.1:g.76925739T>G	GRCh37
NC_000011.8:g.76603387T>G	NCBI36
NG_009086.1:g.91430T>G
NG_009086.2:g.91449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6646T>G MANE Select	ENSP00000386331.3:p.Ter2216Gly
ENST00000670577.1:c.4447T>G
ENST00000409619.6:c.6499T>G	ENSP00000386635.2:p.Ter2167Gly
ENST00000409709.7:c.6646T>G	ENSP00000386331.3:p.Ter2216Gly
ENST00000458169.2:c.4072T>G	ENSP00000417017.2:p.Ter1358Gly
ENST00000458637.6:c.6526T>G	ENSP00000392185.2:p.Ter2176Gly
ENST00000481328.7:n.5196T>G
ENST00000605744.1:n.2160T>G
NM_000260.3:c.6646T>G	NP_000251.3:p.Ter2216Gly
NM_001127180.1:c.6526T>G	NP_001120652.1:p.Ter2176Gly
XM_005274012.2:c.6529T>G	XP_005274069.1:p.Ter2177Gly
XM_006718561.2:c.6532T>G	XP_006718624.1:p.Ter2178Gly
XR_949941.1:n.6940T>G
XM_017017780.1:c.6736T>G	XP_016873269.1:p.Ter2246Gly
XM_017017784.1:c.6619T>G	XP_016873273.1:p.Ter2207Gly
XM_017017788.1:c.6622T>G	XP_016873277.1:p.Ter2208Gly
XR_001747885.1:n.6725T>G
XR_001747887.1:n.6711T>G
NM_000260.4:c.6646T>G MANE Select	NP_000251.3:p.Ter2216Gly
NM_001127180.2:c.6526T>G	NP_001120652.1:p.Ter2176Gly
NM_001369365.1:c.6499T>G	NP_001356294.1:p.Ter2167Gly