Canonical Allele Identifier: CA939780306

Gene: MYO7A

Linked Data

• dbSNP Id: rs1958052212
• gnomAD v3: 11-77214774-C-G
• gnomAD v4: 11-77214774-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214774C>G , CM000673.2:g.77214774C>G	GRCh38
NC_000011.9:g.76925819C>G , CM000673.1:g.76925819C>G	GRCh37
NC_000011.8:g.76603467C>G	NCBI36
NG_009086.1:g.91510C>G
NG_009086.2:g.91529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*78C>G MANE Select	ENSP00000386331.3:n.*78C>G
ENST00000670577.1:c.4527C>G
ENST00000409619.6:c.*78C>G	ENSP00000386635.2:n.*78C>G
ENST00000409709.7:c.*78C>G	ENSP00000386331.3:n.*78C>G
ENST00000458169.2:c.4152C>G	ENSP00000417017.2:n.4152C>G
ENST00000458637.6:c.*78C>G	ENSP00000392185.2:n.*78C>G
ENST00000481328.7:n.5276C>G
ENST00000605744.1:n.2240C>G
NM_000260.3:c.*78C>G	NP_000251.3:n.*78C>G
NM_001127180.1:c.*78C>G	NP_001120652.1:n.*78C>G
XM_005274012.2:c.*78C>G	XP_005274069.1:n.*78C>G
XM_006718561.2:c.*78C>G	XP_006718624.1:n.*78C>G
XR_949941.1:n.7020C>G
XM_017017780.1:c.*78C>G	XP_016873269.1:n.*78C>G
XM_017017784.1:c.*78C>G	XP_016873273.1:n.*78C>G
XM_017017788.1:c.*78C>G	XP_016873277.1:n.*78C>G
XR_001747885.1:n.6805C>G
XR_001747887.1:n.6791C>G
NM_000260.4:c.*78C>G MANE Select	NP_000251.3:n.*78C>G
NM_001127180.2:c.*78C>G	NP_001120652.1:n.*78C>G
NM_001369365.1:c.*78C>G	NP_001356294.1:n.*78C>G