Canonical Allele Identifier: CA6199131

Gene: MYO7A

Linked Data

• dbSNP Id: rs749706085
• ExAC: 11:76925685 A / G
• gnomAD v2: 11-76925685-A-G
• gnomAD v4: 11-77214640-A-G
• MyVariant Identifiers: chr11:g.76925685A>G (hg19) ; chr11:g.77214640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214640A>G , CM000673.2:g.77214640A>G	GRCh38
NC_000011.9:g.76925685A>G , CM000673.1:g.76925685A>G	GRCh37
NC_000011.8:g.76603333A>G	NCBI36
NG_009086.1:g.91376A>G
NG_009086.2:g.91395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6592A>G MANE Select	ENSP00000386331.3:p.Ile2198Val
ENST00000670577.1:c.4393A>G
ENST00000409619.6:c.6445A>G	ENSP00000386635.2:p.Ile2149Val
ENST00000409709.7:c.6592A>G	ENSP00000386331.3:p.Ile2198Val
ENST00000458169.2:c.4018A>G	ENSP00000417017.2:p.Ile1340Val
ENST00000458637.6:c.6472A>G	ENSP00000392185.2:p.Ile2158Val
ENST00000481328.7:n.5142A>G
ENST00000605744.1:n.2106A>G
NM_000260.3:c.6592A>G	NP_000251.3:p.Ile2198Val
NM_001127180.1:c.6472A>G	NP_001120652.1:p.Ile2158Val
XM_005274012.2:c.6475A>G	XP_005274069.1:p.Ile2159Val
XM_006718561.2:c.6478A>G	XP_006718624.1:p.Ile2160Val
XR_949941.1:n.6886A>G
XM_017017780.1:c.6682A>G	XP_016873269.1:p.Ile2228Val
XM_017017784.1:c.6565A>G	XP_016873273.1:p.Ile2189Val
XM_017017788.1:c.6568A>G	XP_016873277.1:p.Ile2190Val
XR_001747885.1:n.6671A>G
XR_001747887.1:n.6657A>G
NM_000260.4:c.6592A>G MANE Select	NP_000251.3:p.Ile2198Val
NM_001127180.2:c.6472A>G	NP_001120652.1:p.Ile2158Val
NM_001369365.1:c.6445A>G	NP_001356294.1:p.Ile2149Val