Canonical Allele Identifier: CA6199145

Gene: MYO7A

Linked Data

• dbSNP Id: rs751088533
• ExAC: 11:76925739 T / C
• MyVariant Identifiers: chr11:g.76925739T>C (hg19) ; chr11:g.77214694T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6646T>C MANE Select	ENSP00000386331.3:p.Ter2216Arg
ENST00000670577.1:c.4447T>C
ENST00000409619.6:c.6499T>C	ENSP00000386635.2:p.Ter2167Arg
ENST00000409709.7:c.6646T>C	ENSP00000386331.3:p.Ter2216Arg
ENST00000458169.2:c.4072T>C	ENSP00000417017.2:p.Ter1358Arg
ENST00000458637.6:c.6526T>C	ENSP00000392185.2:p.Ter2176Arg
ENST00000481328.7:n.5196T>C
ENST00000605744.1:n.2160T>C
NM_000260.3:c.6646T>C	NP_000251.3:p.Ter2216Arg
NM_001127180.1:c.6526T>C	NP_001120652.1:p.Ter2176Arg
XM_005274012.2:c.6529T>C	XP_005274069.1:p.Ter2177Arg
XM_006718561.2:c.6532T>C	XP_006718624.1:p.Ter2178Arg
XR_949941.1:n.6940T>C
XM_017017780.1:c.6736T>C	XP_016873269.1:p.Ter2246Arg
XM_017017784.1:c.6619T>C	XP_016873273.1:p.Ter2207Arg
XM_017017788.1:c.6622T>C	XP_016873277.1:p.Ter2208Arg
XR_001747885.1:n.6725T>C
XR_001747887.1:n.6711T>C
NM_000260.4:c.6646T>C MANE Select	NP_000251.3:p.Ter2216Arg
NM_001127180.2:c.6526T>C	NP_001120652.1:p.Ter2176Arg
NM_001369365.1:c.6499T>C	NP_001356294.1:p.Ter2167Arg