Canonical Allele Identifier: CA381949021

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77192264T>C , CM000673.2:g.77192264T>C	GRCh38
NC_000011.9:g.76903309T>C , CM000673.1:g.76903309T>C	GRCh37
NC_000011.8:g.76580957T>C	NCBI36
NG_009086.1:g.69000T>C
NG_009086.2:g.69019T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.4138T>C MANE Select	NP_000251.3:p.Tyr1380His
ENST00000409709.9:c.4138T>C MANE Select	ENSP00000386331.3:p.Tyr1380His
NM_000260.3:c.4138T>C	NP_000251.3:p.Tyr1380His
NM_001127180.1:c.4138T>C	NP_001120652.1:p.Tyr1380His
NM_001127180.2:c.4138T>C	NP_001120652.1:p.Tyr1380His
NM_001369365.1:c.4105T>C	NP_001356294.1:p.Tyr1369His
ENST00000409619.6:c.4105T>C	ENSP00000386635.2:p.Tyr1369His
ENST00000409709.7:c.4138T>C	ENSP00000386331.3:p.Tyr1380His
ENST00000458169.2:c.1681T>C	ENSP00000417017.2:p.Tyr561His
ENST00000458637.6:c.4138T>C	ENSP00000392185.2:p.Tyr1380His
ENST00000481328.7:n.1681T>C
ENST00000670577.1:c.1979T>C
XM_005274012.2:c.4138T>C	XP_005274069.1:p.Tyr1380His
XM_006718558.2:c.4246T>C	XP_006718621.1:p.Tyr1416His
XM_006718559.2:c.4138T>C	XP_006718622.1:p.Tyr1380His
XM_006718560.2:c.4138T>C	XP_006718623.1:p.Tyr1380His
XM_006718561.2:c.4138T>C	XP_006718624.1:p.Tyr1380His
XM_011545044.1:c.4138T>C	XP_011543346.1:p.Tyr1380His
XM_011545044.2:c.4138T>C	XP_011543346.1:p.Tyr1380His
XM_011545045.1:c.4246T>C	XP_011543347.1:p.Tyr1416His
XM_011545046.1:c.4105T>C	XP_011543348.1:p.Tyr1369His
XM_011545046.2:c.4228T>C	XP_011543348.2:p.Tyr1410His
XM_011545047.1:c.4156T>C	XP_011543349.1:p.Tyr1386His
XM_011545048.1:c.4027T>C	XP_011543350.1:p.Tyr1343His
XM_011545049.1:c.4015T>C	XP_011543351.1:p.Tyr1339His
XM_011545050.1:c.3988T>C	XP_011543352.1:p.Tyr1330His
XM_011545050.2:c.3988T>C	XP_011543352.1:p.Tyr1330His
XM_011545051.1:c.4138T>C	XP_011543353.1:p.Tyr1380His
XM_011545052.1:c.4138T>C	XP_011543354.1:p.Tyr1380His
XM_017017778.1:c.4336T>C	XP_016873267.1:p.Tyr1446His
XM_017017779.1:c.4336T>C	XP_016873268.1:p.Tyr1446His
XM_017017780.1:c.4228T>C	XP_016873269.1:p.Tyr1410His
XM_017017781.1:c.4246T>C	XP_016873270.1:p.Tyr1416His
XM_017017782.1:c.4228T>C	XP_016873271.1:p.Tyr1410His
XM_017017783.1:c.4228T>C	XP_016873272.1:p.Tyr1410His
XM_017017784.1:c.4228T>C	XP_016873273.1:p.Tyr1410His
XM_017017785.1:c.4105T>C	XP_016873274.1:p.Tyr1369His
XM_017017786.1:c.4228T>C	XP_016873275.1:p.Tyr1410His
XM_017017787.1:c.4336T>C	XP_016873276.1:p.Tyr1446His
XM_017017788.1:c.4228T>C	XP_016873277.1:p.Tyr1410His
XR_001747885.1:n.4243T>C
XR_001747886.1:n.4243T>C
XR_001747887.1:n.4243T>C
XR_001747888.1:n.4243T>C
XR_001747889.1:n.4351T>C
XR_949938.1:n.4458T>C
XR_949941.1:n.4458T>C
XR_949942.1:n.4460T>C
XR_949943.1:n.4568T>C