Canonical Allele Identifier: CA475792763

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925673C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214628C>T , CM000673.2:g.77214628C>T	GRCh38
NC_000011.9:g.76925673C>T , CM000673.1:g.76925673C>T	GRCh37
NC_000011.8:g.76603321C>T	NCBI36
NG_009086.1:g.91364C>T
NG_009086.2:g.91383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6580C>T MANE Select	ENSP00000386331.3:p.Leu2194=
ENST00000670577.1:c.4381C>T
ENST00000409619.6:c.6433C>T	ENSP00000386635.2:p.Leu2145=
ENST00000409709.7:c.6580C>T	ENSP00000386331.3:p.Leu2194=
ENST00000458169.2:c.4006C>T	ENSP00000417017.2:p.Leu1336=
ENST00000458637.6:c.6460C>T	ENSP00000392185.2:p.Leu2154=
ENST00000481328.7:n.5130C>T
ENST00000605744.1:n.2094C>T
NM_000260.3:c.6580C>T	NP_000251.3:p.Leu2194=
NM_001127180.1:c.6460C>T	NP_001120652.1:p.Leu2154=
XM_005274012.2:c.6463C>T	XP_005274069.1:p.Leu2155=
XM_006718561.2:c.6466C>T	XP_006718624.1:p.Leu2156=
XR_949941.1:n.6874C>T
XM_017017780.1:c.6670C>T	XP_016873269.1:p.Leu2224=
XM_017017784.1:c.6553C>T	XP_016873273.1:p.Leu2185=
XM_017017788.1:c.6556C>T	XP_016873277.1:p.Leu2186=
XR_001747885.1:n.6659C>T
XR_001747887.1:n.6645C>T
NM_000260.4:c.6580C>T MANE Select	NP_000251.3:p.Leu2194=
NM_001127180.2:c.6460C>T	NP_001120652.1:p.Leu2154=
NM_001369365.1:c.6433C>T	NP_001356294.1:p.Leu2145=