Canonical Allele Identifier: CA381939262

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214639-C-G
• MyVariant Identifiers: chr11:g.76925684C>G (hg19) ; chr11:g.77214639C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214639C>G , CM000673.2:g.77214639C>G	GRCh38
NC_000011.9:g.76925684C>G , CM000673.1:g.76925684C>G	GRCh37
NC_000011.8:g.76603332C>G	NCBI36
NG_009086.1:g.91375C>G
NG_009086.2:g.91394C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6591C>G MANE Select	ENSP00000386331.3:p.Tyr2197Ter
ENST00000670577.1:c.4392C>G
ENST00000409619.6:c.6444C>G	ENSP00000386635.2:p.Tyr2148Ter
ENST00000409709.7:c.6591C>G	ENSP00000386331.3:p.Tyr2197Ter
ENST00000458169.2:c.4017C>G	ENSP00000417017.2:p.Tyr1339Ter
ENST00000458637.6:c.6471C>G	ENSP00000392185.2:p.Tyr2157Ter
ENST00000481328.7:n.5141C>G
ENST00000605744.1:n.2105C>G
NM_000260.3:c.6591C>G	NP_000251.3:p.Tyr2197Ter
NM_001127180.1:c.6471C>G	NP_001120652.1:p.Tyr2157Ter
XM_005274012.2:c.6474C>G	XP_005274069.1:p.Tyr2158Ter
XM_006718561.2:c.6477C>G	XP_006718624.1:p.Tyr2159Ter
XR_949941.1:n.6885C>G
XM_017017780.1:c.6681C>G	XP_016873269.1:p.Tyr2227Ter
XM_017017784.1:c.6564C>G	XP_016873273.1:p.Tyr2188Ter
XM_017017788.1:c.6567C>G	XP_016873277.1:p.Tyr2189Ter
XR_001747885.1:n.6670C>G
XR_001747887.1:n.6656C>G
NM_000260.4:c.6591C>G MANE Select	NP_000251.3:p.Tyr2197Ter
NM_001127180.2:c.6471C>G	NP_001120652.1:p.Tyr2157Ter
NM_001369365.1:c.6444C>G	NP_001356294.1:p.Tyr2148Ter