Canonical Allele Identifier: CA2615269343

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214714-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214714C>T , CM000673.2:g.77214714C>T	GRCh38
NC_000011.9:g.76925759C>T , CM000673.1:g.76925759C>T	GRCh37
NC_000011.8:g.76603407C>T	NCBI36
NG_009086.1:g.91450C>T
NG_009086.2:g.91469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*18C>T MANE Select	ENSP00000386331.3:n.*18C>T
ENST00000670577.1:c.4467C>T
ENST00000409619.6:c.*18C>T	ENSP00000386635.2:n.*18C>T
ENST00000409709.7:c.*18C>T	ENSP00000386331.3:n.*18C>T
ENST00000458169.2:c.4092C>T	ENSP00000417017.2:n.4092C>T
ENST00000458637.6:c.*18C>T	ENSP00000392185.2:n.*18C>T
ENST00000481328.7:n.5216C>T
ENST00000605744.1:n.2180C>T
NM_000260.3:c.*18C>T	NP_000251.3:n.*18C>T
NM_001127180.1:c.*18C>T	NP_001120652.1:n.*18C>T
XM_005274012.2:c.*18C>T	XP_005274069.1:n.*18C>T
XM_006718561.2:c.*18C>T	XP_006718624.1:n.*18C>T
XR_949941.1:n.6960C>T
XM_017017780.1:c.*18C>T	XP_016873269.1:n.*18C>T
XM_017017784.1:c.*18C>T	XP_016873273.1:n.*18C>T
XM_017017788.1:c.*18C>T	XP_016873277.1:n.*18C>T
XR_001747885.1:n.6745C>T
XR_001747887.1:n.6731C>T
NM_000260.4:c.*18C>T MANE Select	NP_000251.3:n.*18C>T
NM_001127180.2:c.*18C>T	NP_001120652.1:n.*18C>T
NM_001369365.1:c.*18C>T	NP_001356294.1:n.*18C>T