Canonical Allele Identifier: CA6198053

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77184596G>C , CM000673.2:g.77184596G>C	GRCh38
NC_000011.9:g.76895641G>C , CM000673.1:g.76895641G>C	GRCh37
NC_000011.8:g.76573289G>C	NCBI36
NG_009086.1:g.61332G>C
NG_009086.2:g.61351G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.3384G>C MANE Select	NP_000251.3:p.Lys1128Asn
ENST00000409709.9:c.3384G>C MANE Select	ENSP00000386331.3:p.Lys1128Asn
NM_000260.3:c.3384G>C	NP_000251.3:p.Lys1128Asn
NM_001127179.2:c.3384G>C	NP_001120651.2:p.Lys1128Asn
NM_001127180.1:c.3384G>C	NP_001120652.1:p.Lys1128Asn
NM_001127180.2:c.3384G>C	NP_001120652.1:p.Lys1128Asn
NM_001369365.1:c.3351G>C	NP_001356294.1:p.Lys1117Asn
ENST00000409619.6:c.3351G>C	ENSP00000386635.2:p.Lys1117Asn
ENST00000409709.7:c.3384G>C	ENSP00000386331.3:p.Lys1128Asn
ENST00000409893.5:c.3384G>C	ENSP00000386689.1:p.Lys1128Asn
ENST00000409893.6:c.1449G>C	ENSP00000386689.2:p.Lys483Asn
ENST00000458169.2:c.927G>C	ENSP00000417017.2:p.Lys309Asn
ENST00000458637.6:c.3384G>C	ENSP00000392185.2:p.Lys1128Asn
ENST00000481328.7:n.927G>C
ENST00000620575.4:c.3393G>C	ENSP00000477640.1:p.Lys1131Asn
ENST00000670577.1:c.1225G>C
XM_005274012.2:c.3384G>C	XP_005274069.1:p.Lys1128Asn
XM_006718558.2:c.3384G>C	XP_006718621.1:p.Lys1128Asn
XM_006718559.2:c.3384G>C	XP_006718622.1:p.Lys1128Asn
XM_006718560.2:c.3384G>C	XP_006718623.1:p.Lys1128Asn
XM_006718561.2:c.3384G>C	XP_006718624.1:p.Lys1128Asn
XM_011545044.1:c.3384G>C	XP_011543346.1:p.Lys1128Asn
XM_011545044.2:c.3384G>C	XP_011543346.1:p.Lys1128Asn
XM_011545045.1:c.3384G>C	XP_011543347.1:p.Lys1128Asn
XM_011545046.1:c.3351G>C	XP_011543348.1:p.Lys1117Asn
XM_011545046.2:c.3474G>C	XP_011543348.2:p.Lys1158Asn
XM_011545047.1:c.3294G>C	XP_011543349.1:p.Lys1098Asn
XM_011545048.1:c.3165G>C	XP_011543350.1:p.Lys1055Asn
XM_011545049.1:c.3153G>C	XP_011543351.1:p.Lys1051Asn
XM_011545050.1:c.3126G>C	XP_011543352.1:p.Lys1042Asn
XM_011545050.2:c.3126G>C	XP_011543352.1:p.Lys1042Asn
XM_011545051.1:c.3384G>C	XP_011543353.1:p.Lys1128Asn
XM_011545052.1:c.3384G>C	XP_011543354.1:p.Lys1128Asn
XM_017017778.1:c.3474G>C	XP_016873267.1:p.Lys1158Asn
XM_017017779.1:c.3474G>C	XP_016873268.1:p.Lys1158Asn
XM_017017780.1:c.3474G>C	XP_016873269.1:p.Lys1158Asn
XM_017017781.1:c.3384G>C	XP_016873270.1:p.Lys1128Asn
XM_017017782.1:c.3474G>C	XP_016873271.1:p.Lys1158Asn
XM_017017783.1:c.3474G>C	XP_016873272.1:p.Lys1158Asn
XM_017017784.1:c.3474G>C	XP_016873273.1:p.Lys1158Asn
XM_017017785.1:c.3243G>C	XP_016873274.1:p.Lys1081Asn
XM_017017786.1:c.3474G>C	XP_016873275.1:p.Lys1158Asn
XM_017017787.1:c.3474G>C	XP_016873276.1:p.Lys1158Asn
XM_017017788.1:c.3474G>C	XP_016873277.1:p.Lys1158Asn
XR_001747885.1:n.3489G>C
XR_001747886.1:n.3489G>C
XR_001747887.1:n.3489G>C
XR_001747888.1:n.3489G>C
XR_001747889.1:n.3489G>C
XR_949938.1:n.3704G>C
XR_949941.1:n.3704G>C
XR_949942.1:n.3706G>C
XR_949943.1:n.3706G>C