Canonical Allele Identifier: CA16609577

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 402265
• ClinVar RCV Id: RCV000454216 ; RCV000674950 ; RCV001003090 ; RCV002522744
• dbSNP Id: rs1060499801
• gnomAD v4: 11-77211296-C-T
• MyVariant Identifiers: chr11:g.76922341C>T (hg19) ; chr11:g.77211296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211296C>T , CM000673.2:g.77211296C>T	GRCh38
NC_000011.9:g.76922341C>T , CM000673.1:g.76922341C>T	GRCh37
NC_000011.8:g.76599989C>T	NCBI36
NG_009086.1:g.88032C>T
NG_009086.2:g.88051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6196C>T MANE Select	ENSP00000386331.3:p.Gln2066Ter
ENST00000670577.1:c.3997C>T
ENST00000409619.6:c.6049C>T	ENSP00000386635.2:p.Gln2017Ter
ENST00000409709.7:c.6196C>T	ENSP00000386331.3:p.Gln2066Ter
ENST00000458169.2:c.3622C>T	ENSP00000417017.2:p.Gln1208Ter
ENST00000458637.6:c.6082C>T	ENSP00000392185.2:p.Gln2028Ter
ENST00000481328.7:n.3732C>T
ENST00000526863.2:n.25+385C>T
ENST00000605744.1:n.1663C>T
NM_000260.3:c.6196C>T	NP_000251.3:p.Gln2066Ter
NM_001127180.1:c.6082C>T	NP_001120652.1:p.Gln2028Ter
XM_005274012.2:c.6079C>T	XP_005274069.1:p.Gln2027Ter
XM_006718558.2:c.6187C>T	XP_006718621.1:p.Gln2063Ter
XM_006718559.2:c.6082C>T	XP_006718622.1:p.Gln2028Ter
XM_006718560.2:c.6079C>T	XP_006718623.1:p.Gln2027Ter
XM_006718561.2:c.6082C>T	XP_006718624.1:p.Gln2028Ter
XM_011545044.1:c.6196C>T	XP_011543346.1:p.Gln2066Ter
XM_011545045.1:c.6190C>T	XP_011543347.1:p.Gln2064Ter
XM_011545046.1:c.6163C>T	XP_011543348.1:p.Gln2055Ter
XM_011545047.1:c.6100C>T	XP_011543349.1:p.Gln2034Ter
XM_011545048.1:c.5971C>T	XP_011543350.1:p.Gln1991Ter
XM_011545049.1:c.5959C>T	XP_011543351.1:p.Gln1987Ter
XM_011545050.1:c.5932C>T	XP_011543352.1:p.Gln1978Ter
XM_011545051.1:c.6196C>T	XP_011543353.1:p.Gln2066Ter
XR_949938.1:n.6516C>T
XR_949941.1:n.6490C>T
XM_011545044.2:c.6196C>T	XP_011543346.1:p.Gln2066Ter
XM_011545046.2:c.6286C>T	XP_011543348.2:p.Gln2096Ter
XM_011545050.2:c.5932C>T	XP_011543352.1:p.Gln1978Ter
XM_017017778.1:c.6280C>T	XP_016873267.1:p.Gln2094Ter
XM_017017779.1:c.6277C>T	XP_016873268.1:p.Gln2093Ter
XM_017017780.1:c.6286C>T	XP_016873269.1:p.Gln2096Ter
XM_017017781.1:c.6190C>T	XP_016873270.1:p.Gln2064Ter
XM_017017782.1:c.6172C>T	XP_016873271.1:p.Gln2058Ter
XM_017017783.1:c.6169C>T	XP_016873272.1:p.Gln2057Ter
XM_017017784.1:c.6169C>T	XP_016873273.1:p.Gln2057Ter
XM_017017785.1:c.6049C>T	XP_016873274.1:p.Gln2017Ter
XM_017017786.1:c.6286C>T	XP_016873275.1:p.Gln2096Ter
XM_017017788.1:c.6172C>T	XP_016873277.1:p.Gln2058Ter
XR_001747885.1:n.6275C>T
XR_001747886.1:n.6216C>T
XR_001747887.1:n.6261C>T
NM_000260.4:c.6196C>T MANE Select	NP_000251.3:p.Gln2066Ter
NM_001127180.2:c.6082C>T	NP_001120652.1:p.Gln2028Ter
NM_001369365.1:c.6049C>T	NP_001356294.1:p.Gln2017Ter