Canonical Allele Identifier: CA381952892

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77205488T>C , CM000673.2:g.77205488T>C	GRCh38
NC_000011.9:g.76916533T>C , CM000673.1:g.76916533T>C	GRCh37
NC_000011.8:g.76594181T>C	NCBI36
NG_009086.1:g.82224T>C
NG_009086.2:g.82243T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5507T>C MANE Select	NP_000251.3:p.Leu1836Pro
ENST00000409709.9:c.5507T>C MANE Select	ENSP00000386331.3:p.Leu1836Pro
NM_000260.3:c.5507T>C	NP_000251.3:p.Leu1836Pro
NM_001127180.1:c.5393T>C	NP_001120652.1:p.Leu1798Pro
NM_001127180.2:c.5393T>C	NP_001120652.1:p.Leu1798Pro
NM_001369365.1:c.5360T>C	NP_001356294.1:p.Leu1787Pro
ENST00000409619.6:c.5360T>C	ENSP00000386635.2:p.Leu1787Pro
ENST00000409709.7:c.5507T>C	ENSP00000386331.3:p.Leu1836Pro
ENST00000458169.2:c.2933T>C	ENSP00000417017.2:p.Leu978Pro
ENST00000458637.6:c.5393T>C	ENSP00000392185.2:p.Leu1798Pro
ENST00000481328.7:n.3043T>C
ENST00000605744.1:n.187-59T>C
ENST00000670577.1:c.3334T>C
XM_005274012.2:c.5390T>C	XP_005274069.1:p.Leu1797Pro
XM_006718558.2:c.5498T>C	XP_006718621.1:p.Leu1833Pro
XM_006718559.2:c.5393T>C	XP_006718622.1:p.Leu1798Pro
XM_006718560.2:c.5390T>C	XP_006718623.1:p.Leu1797Pro
XM_006718561.2:c.5393T>C	XP_006718624.1:p.Leu1798Pro
XM_011545044.1:c.5507T>C	XP_011543346.1:p.Leu1836Pro
XM_011545044.2:c.5507T>C	XP_011543346.1:p.Leu1836Pro
XM_011545045.1:c.5501T>C	XP_011543347.1:p.Leu1834Pro
XM_011545046.1:c.5474T>C	XP_011543348.1:p.Leu1825Pro
XM_011545046.2:c.5597T>C	XP_011543348.2:p.Leu1866Pro
XM_011545047.1:c.5411T>C	XP_011543349.1:p.Leu1804Pro
XM_011545048.1:c.5282T>C	XP_011543350.1:p.Leu1761Pro
XM_011545049.1:c.5270T>C	XP_011543351.1:p.Leu1757Pro
XM_011545050.1:c.5243T>C	XP_011543352.1:p.Leu1748Pro
XM_011545050.2:c.5243T>C	XP_011543352.1:p.Leu1748Pro
XM_011545051.1:c.5507T>C	XP_011543353.1:p.Leu1836Pro
XM_011545052.1:c.5481-59T>C	XP_011543354.1:n.5481-59T>C
XM_017017778.1:c.5591T>C	XP_016873267.1:p.Leu1864Pro
XM_017017779.1:c.5588T>C	XP_016873268.1:p.Leu1863Pro
XM_017017780.1:c.5597T>C	XP_016873269.1:p.Leu1866Pro
XM_017017781.1:c.5501T>C	XP_016873270.1:p.Leu1834Pro
XM_017017782.1:c.5483T>C	XP_016873271.1:p.Leu1828Pro
XM_017017783.1:c.5480T>C	XP_016873272.1:p.Leu1827Pro
XM_017017784.1:c.5480T>C	XP_016873273.1:p.Leu1827Pro
XM_017017785.1:c.5360T>C	XP_016873274.1:p.Leu1787Pro
XM_017017786.1:c.5597T>C	XP_016873275.1:p.Leu1866Pro
XM_017017788.1:c.5483T>C	XP_016873277.1:p.Leu1828Pro
XR_001747885.1:n.5612T>C
XR_001747886.1:n.5586-59T>C
XR_001747887.1:n.5598T>C
XR_001747888.1:n.5572-59T>C
XR_949938.1:n.5827T>C
XR_949941.1:n.5827T>C
XR_949942.1:n.5789-59T>C