Canonical Allele Identifier: CA6198614

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77202321G>A , CM000673.2:g.77202321G>A	GRCh38
NC_000011.9:g.76913366G>A , CM000673.1:g.76913366G>A	GRCh37
NC_000011.8:g.76591014G>A	NCBI36
NG_009086.1:g.79057G>A
NG_009086.2:g.79076G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5065G>A MANE Select	NP_000251.3:p.Asp1689Asn
ENST00000409709.9:c.5065G>A MANE Select	ENSP00000386331.3:p.Asp1689Asn
NM_000260.3:c.5065G>A	NP_000251.3:p.Asp1689Asn
NM_001127180.1:c.4951G>A	NP_001120652.1:p.Asp1651Asn
NM_001127180.2:c.4951G>A	NP_001120652.1:p.Asp1651Asn
NM_001369365.1:c.4918G>A	NP_001356294.1:p.Asp1640Asn
ENST00000409619.6:c.4918G>A	ENSP00000386635.2:p.Asp1640Asn
ENST00000409709.7:c.5065G>A	ENSP00000386331.3:p.Asp1689Asn
ENST00000458169.2:c.2491G>A	ENSP00000417017.2:p.Asp831Asn
ENST00000458637.6:c.4951G>A	ENSP00000392185.2:p.Asp1651Asn
ENST00000481328.7:n.2601G>A
ENST00000670577.1:c.2906G>A
XM_005274012.2:c.4948G>A	XP_005274069.1:p.Asp1650Asn
XM_006718558.2:c.5056G>A	XP_006718621.1:p.Asp1686Asn
XM_006718559.2:c.4951G>A	XP_006718622.1:p.Asp1651Asn
XM_006718560.2:c.4948G>A	XP_006718623.1:p.Asp1650Asn
XM_006718561.2:c.4951G>A	XP_006718624.1:p.Asp1651Asn
XM_011545044.1:c.5065G>A	XP_011543346.1:p.Asp1689Asn
XM_011545044.2:c.5065G>A	XP_011543346.1:p.Asp1689Asn
XM_011545045.1:c.5059G>A	XP_011543347.1:p.Asp1687Asn
XM_011545046.1:c.5032G>A	XP_011543348.1:p.Asp1678Asn
XM_011545046.2:c.5155G>A	XP_011543348.2:p.Asp1719Asn
XM_011545047.1:c.4969G>A	XP_011543349.1:p.Asp1657Asn
XM_011545048.1:c.4840G>A	XP_011543350.1:p.Asp1614Asn
XM_011545049.1:c.4828G>A	XP_011543351.1:p.Asp1610Asn
XM_011545050.1:c.4801G>A	XP_011543352.1:p.Asp1601Asn
XM_011545050.2:c.4801G>A	XP_011543352.1:p.Asp1601Asn
XM_011545051.1:c.5065G>A	XP_011543353.1:p.Asp1689Asn
XM_011545052.1:c.5065G>A	XP_011543354.1:p.Asp1689Asn
XM_017017778.1:c.5149G>A	XP_016873267.1:p.Asp1717Asn
XM_017017779.1:c.5146G>A	XP_016873268.1:p.Asp1716Asn
XM_017017780.1:c.5155G>A	XP_016873269.1:p.Asp1719Asn
XM_017017781.1:c.5059G>A	XP_016873270.1:p.Asp1687Asn
XM_017017782.1:c.5041G>A	XP_016873271.1:p.Asp1681Asn
XM_017017783.1:c.5038G>A	XP_016873272.1:p.Asp1680Asn
XM_017017784.1:c.5038G>A	XP_016873273.1:p.Asp1680Asn
XM_017017785.1:c.4918G>A	XP_016873274.1:p.Asp1640Asn
XM_017017786.1:c.5155G>A	XP_016873275.1:p.Asp1719Asn
XM_017017788.1:c.5041G>A	XP_016873277.1:p.Asp1681Asn
XR_001747885.1:n.5170G>A
XR_001747886.1:n.5170G>A
XR_001747887.1:n.5170G>A
XR_001747888.1:n.5170G>A
XR_949938.1:n.5385G>A
XR_949941.1:n.5385G>A
XR_949942.1:n.5387G>A