Canonical Allele Identifier: CA278669
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43240
dbSNP Id: rs111033337

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77198493A>C , CM000673.2:g.77198493A>C GRCh38
NC_000011.9:g.76909538A>C , CM000673.1:g.76909538A>C GRCh37
NC_000011.8:g.76587186A>C NCBI36
NG_009086.1:g.75229A>C
NG_009086.2:g.75248A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409709.9:c.4442-2A>C MANE Select ENSP00000386331.3:n.4442-2A>C
ENST00000670577.1:c.2283-2A>C
ENST00000409619.6:c.4409-2A>C ENSP00000386635.2:n.4409-2A>C
ENST00000409709.7:c.4442-2A>C ENSP00000386331.3:n.4442-2A>C
ENST00000458169.2:c.1985-2A>C ENSP00000417017.2:n.1985-2A>C
ENST00000458637.6:c.4442-2A>C ENSP00000392185.2:n.4442-2A>C
ENST00000481328.7:n.2095-2A>C
NM_000260.3:c.4442-2A>C NP_000251.3:n.4442-2A>C
NM_001127180.1:c.4442-2A>C NP_001120652.1:n.4442-2A>C
XM_005274012.2:c.4442-2A>C XP_005274069.1:n.4442-2A>C
XM_006718558.2:c.4550-2A>C XP_006718621.1:n.4550-2A>C
XM_006718559.2:c.4442-2A>C XP_006718622.1:n.4442-2A>C
XM_006718560.2:c.4442-2A>C XP_006718623.1:n.4442-2A>C
XM_006718561.2:c.4442-2A>C XP_006718624.1:n.4442-2A>C
XM_011545044.1:c.4442-2A>C XP_011543346.1:n.4442-2A>C
XM_011545045.1:c.4550-2A>C XP_011543347.1:n.4550-2A>C
XM_011545046.1:c.4409-2A>C XP_011543348.1:n.4409-2A>C
XM_011545047.1:c.4460-2A>C XP_011543349.1:n.4460-2A>C
XM_011545048.1:c.4331-2A>C XP_011543350.1:n.4331-2A>C
XM_011545049.1:c.4319-2A>C XP_011543351.1:n.4319-2A>C
XM_011545050.1:c.4292-2A>C XP_011543352.1:n.4292-2A>C
XM_011545051.1:c.4442-2A>C XP_011543353.1:n.4442-2A>C
XM_011545052.1:c.4442-2A>C XP_011543354.1:n.4442-2A>C
XR_949938.1:n.4762-2A>C
XR_949941.1:n.4762-2A>C
XR_949942.1:n.4764-2A>C
XM_011545044.2:c.4442-2A>C XP_011543346.1:n.4442-2A>C
XM_011545046.2:c.4532-2A>C XP_011543348.2:n.4532-2A>C
XM_011545050.2:c.4292-2A>C XP_011543352.1:n.4292-2A>C
XM_017017778.1:c.4640-2A>C XP_016873267.1:n.4640-2A>C
XM_017017779.1:c.4640-2A>C XP_016873268.1:n.4640-2A>C
XM_017017780.1:c.4532-2A>C XP_016873269.1:n.4532-2A>C
XM_017017781.1:c.4550-2A>C XP_016873270.1:n.4550-2A>C
XM_017017782.1:c.4532-2A>C XP_016873271.1:n.4532-2A>C
XM_017017783.1:c.4532-2A>C XP_016873272.1:n.4532-2A>C
XM_017017784.1:c.4532-2A>C XP_016873273.1:n.4532-2A>C
XM_017017785.1:c.4409-2A>C XP_016873274.1:n.4409-2A>C
XM_017017786.1:c.4532-2A>C XP_016873275.1:n.4532-2A>C
XM_017017788.1:c.4532-2A>C XP_016873277.1:n.4532-2A>C
XR_001747885.1:n.4547-2A>C
XR_001747886.1:n.4547-2A>C
XR_001747887.1:n.4547-2A>C
XR_001747888.1:n.4547-2A>C
NM_000260.4:c.4442-2A>C MANE Select NP_000251.3:n.4442-2A>C
NM_001127180.2:c.4442-2A>C NP_001120652.1:n.4442-2A>C
NM_001369365.1:c.4409-2A>C NP_001356294.1:n.4409-2A>C