Canonical Allele Identifier: CA2615269498

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214839-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214839C>T , CM000673.2:g.77214839C>T	GRCh38
NC_000011.9:g.76925884C>T , CM000673.1:g.76925884C>T	GRCh37
NC_000011.8:g.76603532C>T	NCBI36
NG_009086.1:g.91575C>T
NG_009086.2:g.91594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*143C>T MANE Select	ENSP00000386331.3:n.*143C>T
ENST00000670577.1:c.4592C>T
ENST00000409619.6:c.*143C>T	ENSP00000386635.2:n.*143C>T
ENST00000409709.7:c.*143C>T	ENSP00000386331.3:n.*143C>T
ENST00000458169.2:c.4217C>T	ENSP00000417017.2:n.4217C>T
ENST00000458637.6:c.*143C>T	ENSP00000392185.2:n.*143C>T
ENST00000481328.7:n.5341C>T
ENST00000605744.1:n.2305C>T
NM_000260.3:c.*143C>T	NP_000251.3:n.*143C>T
NM_001127180.1:c.*143C>T	NP_001120652.1:n.*143C>T
XM_005274012.2:c.*143C>T	XP_005274069.1:n.*143C>T
XM_006718561.2:c.*143C>T	XP_006718624.1:n.*143C>T
XR_949941.1:n.7085C>T
XM_017017780.1:c.*143C>T	XP_016873269.1:n.*143C>T
XM_017017784.1:c.*143C>T	XP_016873273.1:n.*143C>T
XM_017017788.1:c.*143C>T	XP_016873277.1:n.*143C>T
XR_001747885.1:n.6870C>T
XR_001747887.1:n.6856C>T
NM_000260.4:c.*143C>T MANE Select	NP_000251.3:n.*143C>T
NM_001127180.2:c.*143C>T	NP_001120652.1:n.*143C>T
NM_001369365.1:c.*143C>T	NP_001356294.1:n.*143C>T