Canonical Allele Identifier: CA381939543

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925736A>C (hg19) ; chr11:g.77214691A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214691A>C , CM000673.2:g.77214691A>C	GRCh38
NC_000011.9:g.76925736A>C , CM000673.1:g.76925736A>C	GRCh37
NC_000011.8:g.76603384A>C	NCBI36
NG_009086.1:g.91427A>C
NG_009086.2:g.91446A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6643A>C MANE Select	ENSP00000386331.3:p.Lys2215Gln
ENST00000670577.1:c.4444A>C
ENST00000409619.6:c.6496A>C	ENSP00000386635.2:p.Lys2166Gln
ENST00000409709.7:c.6643A>C	ENSP00000386331.3:p.Lys2215Gln
ENST00000458169.2:c.4069A>C	ENSP00000417017.2:p.Lys1357Gln
ENST00000458637.6:c.6523A>C	ENSP00000392185.2:p.Lys2175Gln
ENST00000481328.7:n.5193A>C
ENST00000605744.1:n.2157A>C
NM_000260.3:c.6643A>C	NP_000251.3:p.Lys2215Gln
NM_001127180.1:c.6523A>C	NP_001120652.1:p.Lys2175Gln
XM_005274012.2:c.6526A>C	XP_005274069.1:p.Lys2176Gln
XM_006718561.2:c.6529A>C	XP_006718624.1:p.Lys2177Gln
XR_949941.1:n.6937A>C
XM_017017780.1:c.6733A>C	XP_016873269.1:p.Lys2245Gln
XM_017017784.1:c.6616A>C	XP_016873273.1:p.Lys2206Gln
XM_017017788.1:c.6619A>C	XP_016873277.1:p.Lys2207Gln
XR_001747885.1:n.6722A>C
XR_001747887.1:n.6708A>C
NM_000260.4:c.6643A>C MANE Select	NP_000251.3:p.Lys2215Gln
NM_001127180.2:c.6523A>C	NP_001120652.1:p.Lys2175Gln
NM_001369365.1:c.6496A>C	NP_001356294.1:p.Lys2166Gln