Canonical Allele Identifier: CA381951918

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77202426T>C , CM000673.2:g.77202426T>C	GRCh38
NC_000011.9:g.76913471T>C , CM000673.1:g.76913471T>C	GRCh37
NC_000011.8:g.76591119T>C	NCBI36
NG_009086.1:g.79162T>C
NG_009086.2:g.79181T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5168+2T>C MANE Select	NP_000251.3:n.5168+2T>C
ENST00000409709.9:c.5168+2T>C MANE Select	ENSP00000386331.3:n.5168+2T>C
NM_000260.3:c.5168+2T>C	NP_000251.3:n.5168+2T>C
NM_001127180.1:c.5054+2T>C	NP_001120652.1:n.5054+2T>C
NM_001127180.2:c.5054+2T>C	NP_001120652.1:n.5054+2T>C
NM_001369365.1:c.5021+2T>C	NP_001356294.1:n.5021+2T>C
ENST00000409619.6:c.5021+2T>C	ENSP00000386635.2:n.5021+2T>C
ENST00000409709.7:c.5168+2T>C	ENSP00000386331.3:n.5168+2T>C
ENST00000458169.2:c.2594+2T>C	ENSP00000417017.2:n.2594+2T>C
ENST00000458637.6:c.5054+2T>C	ENSP00000392185.2:n.5054+2T>C
ENST00000481328.7:n.2704+2T>C
ENST00000670577.1:c.3009+2T>C
XM_005274012.2:c.5051+2T>C	XP_005274069.1:n.5051+2T>C
XM_006718558.2:c.5159+2T>C	XP_006718621.1:n.5159+2T>C
XM_006718559.2:c.5054+2T>C	XP_006718622.1:n.5054+2T>C
XM_006718560.2:c.5051+2T>C	XP_006718623.1:n.5051+2T>C
XM_006718561.2:c.5054+2T>C	XP_006718624.1:n.5054+2T>C
XM_011545044.1:c.5168+2T>C	XP_011543346.1:n.5168+2T>C
XM_011545044.2:c.5168+2T>C	XP_011543346.1:n.5168+2T>C
XM_011545045.1:c.5162+2T>C	XP_011543347.1:n.5162+2T>C
XM_011545046.1:c.5135+2T>C	XP_011543348.1:n.5135+2T>C
XM_011545046.2:c.5258+2T>C	XP_011543348.2:n.5258+2T>C
XM_011545047.1:c.5072+2T>C	XP_011543349.1:n.5072+2T>C
XM_011545048.1:c.4943+2T>C	XP_011543350.1:n.4943+2T>C
XM_011545049.1:c.4931+2T>C	XP_011543351.1:n.4931+2T>C
XM_011545050.1:c.4904+2T>C	XP_011543352.1:n.4904+2T>C
XM_011545050.2:c.4904+2T>C	XP_011543352.1:n.4904+2T>C
XM_011545051.1:c.5168+2T>C	XP_011543353.1:n.5168+2T>C
XM_011545052.1:c.5168+2T>C	XP_011543354.1:n.5168+2T>C
XM_017017778.1:c.5252+2T>C	XP_016873267.1:n.5252+2T>C
XM_017017779.1:c.5249+2T>C	XP_016873268.1:n.5249+2T>C
XM_017017780.1:c.5258+2T>C	XP_016873269.1:n.5258+2T>C
XM_017017781.1:c.5162+2T>C	XP_016873270.1:n.5162+2T>C
XM_017017782.1:c.5144+2T>C	XP_016873271.1:n.5144+2T>C
XM_017017783.1:c.5141+2T>C	XP_016873272.1:n.5141+2T>C
XM_017017784.1:c.5141+2T>C	XP_016873273.1:n.5141+2T>C
XM_017017785.1:c.5021+2T>C	XP_016873274.1:n.5021+2T>C
XM_017017786.1:c.5258+2T>C	XP_016873275.1:n.5258+2T>C
XM_017017788.1:c.5144+2T>C	XP_016873277.1:n.5144+2T>C
XR_001747885.1:n.5273+2T>C
XR_001747886.1:n.5273+2T>C
XR_001747887.1:n.5273+2T>C
XR_001747888.1:n.5273+2T>C
XR_949938.1:n.5488+2T>C
XR_949941.1:n.5488+2T>C
XR_949942.1:n.5490+2T>C