Canonical Allele Identifier: CA381939567

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214695-G-T
• MyVariant Identifiers: chr11:g.76925740G>T (hg19) ; chr11:g.77214695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214695G>T , CM000673.2:g.77214695G>T	GRCh38
NC_000011.9:g.76925740G>T , CM000673.1:g.76925740G>T	GRCh37
NC_000011.8:g.76603388G>T	NCBI36
NG_009086.1:g.91431G>T
NG_009086.2:g.91450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6647G>T MANE Select	ENSP00000386331.3:p.Ter2216Leu
ENST00000670577.1:c.4448G>T
ENST00000409619.6:c.6500G>T	ENSP00000386635.2:p.Ter2167Leu
ENST00000409709.7:c.6647G>T	ENSP00000386331.3:p.Ter2216Leu
ENST00000458169.2:c.4073G>T	ENSP00000417017.2:p.Ter1358Leu
ENST00000458637.6:c.6527G>T	ENSP00000392185.2:p.Ter2176Leu
ENST00000481328.7:n.5197G>T
ENST00000605744.1:n.2161G>T
NM_000260.3:c.6647G>T	NP_000251.3:p.Ter2216Leu
NM_001127180.1:c.6527G>T	NP_001120652.1:p.Ter2176Leu
XM_005274012.2:c.6530G>T	XP_005274069.1:p.Ter2177Leu
XM_006718561.2:c.6533G>T	XP_006718624.1:p.Ter2178Leu
XR_949941.1:n.6941G>T
XM_017017780.1:c.6737G>T	XP_016873269.1:p.Ter2246Leu
XM_017017784.1:c.6620G>T	XP_016873273.1:p.Ter2207Leu
XM_017017788.1:c.6623G>T	XP_016873277.1:p.Ter2208Leu
XR_001747885.1:n.6726G>T
XR_001747887.1:n.6712G>T
NM_000260.4:c.6647G>T MANE Select	NP_000251.3:p.Ter2216Leu
NM_001127180.2:c.6527G>T	NP_001120652.1:p.Ter2176Leu
NM_001369365.1:c.6500G>T	NP_001356294.1:p.Ter2167Leu