Canonical Allele Identifier: CA381944202

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.77182096A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77182096A>T , CM000673.2:g.77182096A>T	GRCh38
NC_000011.8:g.76570790A>T	NCBI36
NG_009086.1:g.58833A>T
NG_009086.2:g.58851A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.3050A>T MANE Select	ENSP00000386331.3:p.Tyr1017Phe
ENST00000409893.6:c.1115A>T	ENSP00000386689.2:p.Tyr372Phe
ENST00000670577.1:c.891A>T
ENST00000409619.6:c.3017A>T	ENSP00000386635.2:p.Tyr1006Phe
ENST00000409709.7:c.3050A>T	ENSP00000386331.3:p.Tyr1017Phe
ENST00000409893.5:c.3050A>T	ENSP00000386689.1:p.Tyr1017Phe
ENST00000458169.2:c.593A>T	ENSP00000417017.2:p.Tyr198Phe
ENST00000458637.6:c.3050A>T	ENSP00000392185.2:p.Tyr1017Phe
ENST00000481328.7:n.593A>T
ENST00000620575.4:c.3050A>T	ENSP00000477640.1:p.Tyr1017Phe
NM_000260.3:c.3050A>T	NP_000251.3:p.Tyr1017Phe
NM_001127179.2:c.3050A>T	NP_001120651.2:p.Tyr1017Phe
NM_001127180.1:c.3050A>T	NP_001120652.1:p.Tyr1017Phe
XM_005274012.2:c.3050A>T	XP_005274069.1:p.Tyr1017Phe
XM_006718558.2:c.3050A>T	XP_006718621.1:p.Tyr1017Phe
XM_006718559.2:c.3050A>T	XP_006718622.1:p.Tyr1017Phe
XM_006718560.2:c.3050A>T	XP_006718623.1:p.Tyr1017Phe
XM_006718561.2:c.3050A>T	XP_006718624.1:p.Tyr1017Phe
XM_011545044.1:c.3050A>T	XP_011543346.1:p.Tyr1017Phe
XM_011545045.1:c.3050A>T	XP_011543347.1:p.Tyr1017Phe
XM_011545046.1:c.3017A>T	XP_011543348.1:p.Tyr1006Phe
XM_011545047.1:c.3050A>T	XP_011543349.1:p.Tyr1017Phe
XM_011545048.1:c.2831A>T	XP_011543350.1:p.Tyr944Phe
XM_011545049.1:c.2819A>T	XP_011543351.1:p.Tyr940Phe
XM_011545050.1:c.2792A>T	XP_011543352.1:p.Tyr931Phe
XM_011545051.1:c.3050A>T	XP_011543353.1:p.Tyr1017Phe
XM_011545052.1:c.3050A>T	XP_011543354.1:p.Tyr1017Phe
XR_949938.1:n.3370A>T
XR_949941.1:n.3370A>T
XR_949942.1:n.3372A>T
XR_949943.1:n.3372A>T
XM_011545044.2:c.3050A>T	XP_011543346.1:p.Tyr1017Phe
XM_011545046.2:c.3140A>T	XP_011543348.2:p.Tyr1047Phe
XM_011545050.2:c.2792A>T	XP_011543352.1:p.Tyr931Phe
XM_017017778.1:c.3140A>T	XP_016873267.1:p.Tyr1047Phe
XM_017017779.1:c.3140A>T	XP_016873268.1:p.Tyr1047Phe
XM_017017780.1:c.3140A>T	XP_016873269.1:p.Tyr1047Phe
XM_017017781.1:c.3140A>T	XP_016873270.1:p.Tyr1047Phe
XM_017017782.1:c.3140A>T	XP_016873271.1:p.Tyr1047Phe
XM_017017783.1:c.3140A>T	XP_016873272.1:p.Tyr1047Phe
XM_017017784.1:c.3140A>T	XP_016873273.1:p.Tyr1047Phe
XM_017017785.1:c.2909A>T	XP_016873274.1:p.Tyr970Phe
XM_017017786.1:c.3140A>T	XP_016873275.1:p.Tyr1047Phe
XM_017017787.1:c.3140A>T	XP_016873276.1:p.Tyr1047Phe
XM_017017788.1:c.3140A>T	XP_016873277.1:p.Tyr1047Phe
XR_001747885.1:n.3155A>T
XR_001747886.1:n.3155A>T
XR_001747887.1:n.3155A>T
XR_001747888.1:n.3155A>T
XR_001747889.1:n.3155A>T
NM_000260.4:c.3050A>T MANE Select	NP_000251.3:p.Tyr1017Phe
NM_001127180.2:c.3050A>T	NP_001120652.1:p.Tyr1017Phe
NM_001369365.1:c.3017A>T	NP_001356294.1:p.Tyr1006Phe