Canonical Allele Identifier: CA381939136

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925662T>G (hg19) ; chr11:g.77214617T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214617T>G , CM000673.2:g.77214617T>G	GRCh38
NC_000011.9:g.76925662T>G , CM000673.1:g.76925662T>G	GRCh37
NC_000011.8:g.76603310T>G	NCBI36
NG_009086.1:g.91353T>G
NG_009086.2:g.91372T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6569T>G MANE Select	ENSP00000386331.3:p.Met2190Arg
ENST00000670577.1:c.4370T>G
ENST00000409619.6:c.6422T>G	ENSP00000386635.2:p.Met2141Arg
ENST00000409709.7:c.6569T>G	ENSP00000386331.3:p.Met2190Arg
ENST00000458169.2:c.3995T>G	ENSP00000417017.2:p.Met1332Arg
ENST00000458637.6:c.6449T>G	ENSP00000392185.2:p.Met2150Arg
ENST00000481328.7:n.5119T>G
ENST00000605744.1:n.2083T>G
NM_000260.3:c.6569T>G	NP_000251.3:p.Met2190Arg
NM_001127180.1:c.6449T>G	NP_001120652.1:p.Met2150Arg
XM_005274012.2:c.6452T>G	XP_005274069.1:p.Met2151Arg
XM_006718561.2:c.6455T>G	XP_006718624.1:p.Met2152Arg
XR_949941.1:n.6863T>G
XM_017017780.1:c.6659T>G	XP_016873269.1:p.Met2220Arg
XM_017017784.1:c.6542T>G	XP_016873273.1:p.Met2181Arg
XM_017017788.1:c.6545T>G	XP_016873277.1:p.Met2182Arg
XR_001747885.1:n.6648T>G
XR_001747887.1:n.6634T>G
NM_000260.4:c.6569T>G MANE Select	NP_000251.3:p.Met2190Arg
NM_001127180.2:c.6449T>G	NP_001120652.1:p.Met2150Arg
NM_001369365.1:c.6422T>G	NP_001356294.1:p.Met2141Arg