Canonical Allele Identifier: CA132335

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199555C>T , CM000673.2:g.77199555C>T	GRCh38
NC_000011.9:g.76910600C>T , CM000673.1:g.76910600C>T	GRCh37
NC_000011.8:g.76588248C>T	NCBI36
NG_009086.1:g.76291C>T
NG_009086.2:g.76310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4589C>T MANE Select	ENSP00000386331.3:p.Ser1530Leu
ENST00000670577.1:c.2430C>T
ENST00000409619.6:c.4536-94C>T	ENSP00000386635.2:n.4536-94C>T
ENST00000409709.7:c.4589C>T	ENSP00000386331.3:p.Ser1530Leu
ENST00000458169.2:c.2112-94C>T	ENSP00000417017.2:n.2112-94C>T
ENST00000458637.6:c.4569-94C>T	ENSP00000392185.2:n.4569-94C>T
ENST00000481328.7:n.2222-94C>T
NM_000260.3:c.4589C>T	NP_000251.3:p.Ser1530Leu
NM_001127180.1:c.4569-94C>T	NP_001120652.1:n.4569-94C>T
XM_005274012.2:c.4569-94C>T	XP_005274069.1:n.4569-94C>T
XM_006718558.2:c.4677-94C>T	XP_006718621.1:n.4677-94C>T
XM_006718559.2:c.4569-94C>T	XP_006718622.1:n.4569-94C>T
XM_006718560.2:c.4569-94C>T	XP_006718623.1:n.4569-94C>T
XM_006718561.2:c.4569-94C>T	XP_006718624.1:n.4569-94C>T
XM_011545044.1:c.4589C>T	XP_011543346.1:p.Ser1530Leu
XM_011545045.1:c.4677-94C>T	XP_011543347.1:n.4677-94C>T
XM_011545046.1:c.4556C>T	XP_011543348.1:p.Ser1519Leu
XM_011545047.1:c.4587-94C>T	XP_011543349.1:n.4587-94C>T
XM_011545048.1:c.4458-94C>T	XP_011543350.1:n.4458-94C>T
XM_011545049.1:c.4446-94C>T	XP_011543351.1:n.4446-94C>T
XM_011545050.1:c.4419-94C>T	XP_011543352.1:n.4419-94C>T
XM_011545051.1:c.4589C>T	XP_011543353.1:p.Ser1530Leu
XM_011545052.1:c.4589C>T	XP_011543354.1:p.Ser1530Leu
XR_949938.1:n.4909C>T
XR_949941.1:n.4909C>T
XR_949942.1:n.4911C>T
XM_011545044.2:c.4589C>T	XP_011543346.1:p.Ser1530Leu
XM_011545046.2:c.4679C>T	XP_011543348.2:p.Ser1560Leu
XM_011545050.2:c.4419-94C>T	XP_011543352.1:n.4419-94C>T
XM_017017778.1:c.4767-94C>T	XP_016873267.1:n.4767-94C>T
XM_017017779.1:c.4767-94C>T	XP_016873268.1:n.4767-94C>T
XM_017017780.1:c.4679C>T	XP_016873269.1:p.Ser1560Leu
XM_017017781.1:c.4677-94C>T	XP_016873270.1:n.4677-94C>T
XM_017017782.1:c.4659-94C>T	XP_016873271.1:n.4659-94C>T
XM_017017783.1:c.4659-94C>T	XP_016873272.1:n.4659-94C>T
XM_017017784.1:c.4659-94C>T	XP_016873273.1:n.4659-94C>T
XM_017017785.1:c.4536-94C>T	XP_016873274.1:n.4536-94C>T
XM_017017786.1:c.4679C>T	XP_016873275.1:p.Ser1560Leu
XM_017017788.1:c.4659-94C>T	XP_016873277.1:n.4659-94C>T
XR_001747885.1:n.4694C>T
XR_001747886.1:n.4694C>T
XR_001747887.1:n.4694C>T
XR_001747888.1:n.4694C>T
NM_000260.4:c.4589C>T MANE Select	NP_000251.3:p.Ser1530Leu
NM_001127180.2:c.4569-94C>T	NP_001120652.1:n.4569-94C>T
NM_001369365.1:c.4536-94C>T	NP_001356294.1:n.4536-94C>T