Canonical Allele Identifier: CA680409120

Gene: MYO7A

Linked Data

• dbSNP Id: rs1200145638
• gnomAD v3: 11-77214810-G-A
• gnomAD v4: 11-77214810-G-A
• MyVariant Identifiers: chr11:g.76925855G>A (hg19) ; chr11:g.77214810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214810G>A , CM000673.2:g.77214810G>A	GRCh38
NC_000011.9:g.76925855G>A , CM000673.1:g.76925855G>A	GRCh37
NC_000011.8:g.76603503G>A	NCBI36
NG_009086.1:g.91546G>A
NG_009086.2:g.91565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*114G>A MANE Select	ENSP00000386331.3:n.*114G>A
ENST00000670577.1:c.4563G>A
ENST00000409619.6:c.*114G>A	ENSP00000386635.2:n.*114G>A
ENST00000409709.7:c.*114G>A	ENSP00000386331.3:n.*114G>A
ENST00000458169.2:c.4188G>A	ENSP00000417017.2:n.4188G>A
ENST00000458637.6:c.*114G>A	ENSP00000392185.2:n.*114G>A
ENST00000481328.7:n.5312G>A
ENST00000605744.1:n.2276G>A
NM_000260.3:c.*114G>A	NP_000251.3:n.*114G>A
NM_001127180.1:c.*114G>A	NP_001120652.1:n.*114G>A
XM_005274012.2:c.*114G>A	XP_005274069.1:n.*114G>A
XM_006718561.2:c.*114G>A	XP_006718624.1:n.*114G>A
XR_949941.1:n.7056G>A
XM_017017780.1:c.*114G>A	XP_016873269.1:n.*114G>A
XM_017017784.1:c.*114G>A	XP_016873273.1:n.*114G>A
XM_017017788.1:c.*114G>A	XP_016873277.1:n.*114G>A
XR_001747885.1:n.6841G>A
XR_001747887.1:n.6827G>A
NM_000260.4:c.*114G>A MANE Select	NP_000251.3:n.*114G>A
NM_001127180.2:c.*114G>A	NP_001120652.1:n.*114G>A
NM_001369365.1:c.*114G>A	NP_001356294.1:n.*114G>A