Canonical Allele Identifier: CA381939565

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925740G>C (hg19) ; chr11:g.77214695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214695G>C , CM000673.2:g.77214695G>C	GRCh38
NC_000011.9:g.76925740G>C , CM000673.1:g.76925740G>C	GRCh37
NC_000011.8:g.76603388G>C	NCBI36
NG_009086.1:g.91431G>C
NG_009086.2:g.91450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6647G>C MANE Select	ENSP00000386331.3:p.Ter2216Ser
ENST00000670577.1:c.4448G>C
ENST00000409619.6:c.6500G>C	ENSP00000386635.2:p.Ter2167Ser
ENST00000409709.7:c.6647G>C	ENSP00000386331.3:p.Ter2216Ser
ENST00000458169.2:c.4073G>C	ENSP00000417017.2:p.Ter1358Ser
ENST00000458637.6:c.6527G>C	ENSP00000392185.2:p.Ter2176Ser
ENST00000481328.7:n.5197G>C
ENST00000605744.1:n.2161G>C
NM_000260.3:c.6647G>C	NP_000251.3:p.Ter2216Ser
NM_001127180.1:c.6527G>C	NP_001120652.1:p.Ter2176Ser
XM_005274012.2:c.6530G>C	XP_005274069.1:p.Ter2177Ser
XM_006718561.2:c.6533G>C	XP_006718624.1:p.Ter2178Ser
XR_949941.1:n.6941G>C
XM_017017780.1:c.6737G>C	XP_016873269.1:p.Ter2246Ser
XM_017017784.1:c.6620G>C	XP_016873273.1:p.Ter2207Ser
XM_017017788.1:c.6623G>C	XP_016873277.1:p.Ter2208Ser
XR_001747885.1:n.6726G>C
XR_001747887.1:n.6712G>C
NM_000260.4:c.6647G>C MANE Select	NP_000251.3:p.Ter2216Ser
NM_001127180.2:c.6527G>C	NP_001120652.1:p.Ter2176Ser
NM_001369365.1:c.6500G>C	NP_001356294.1:p.Ter2167Ser