Canonical Allele Identifier: CA381939418

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925710G>T (hg19) ; chr11:g.77214665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214665G>T , CM000673.2:g.77214665G>T	GRCh38
NC_000011.9:g.76925710G>T , CM000673.1:g.76925710G>T	GRCh37
NC_000011.8:g.76603358G>T	NCBI36
NG_009086.1:g.91401G>T
NG_009086.2:g.91420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6617G>T MANE Select	ENSP00000386331.3:p.Ser2206Ile
ENST00000670577.1:c.4418G>T
ENST00000409619.6:c.6470G>T	ENSP00000386635.2:p.Ser2157Ile
ENST00000409709.7:c.6617G>T	ENSP00000386331.3:p.Ser2206Ile
ENST00000458169.2:c.4043G>T	ENSP00000417017.2:p.Ser1348Ile
ENST00000458637.6:c.6497G>T	ENSP00000392185.2:p.Ser2166Ile
ENST00000481328.7:n.5167G>T
ENST00000605744.1:n.2131G>T
NM_000260.3:c.6617G>T	NP_000251.3:p.Ser2206Ile
NM_001127180.1:c.6497G>T	NP_001120652.1:p.Ser2166Ile
XM_005274012.2:c.6500G>T	XP_005274069.1:p.Ser2167Ile
XM_006718561.2:c.6503G>T	XP_006718624.1:p.Ser2168Ile
XR_949941.1:n.6911G>T
XM_017017780.1:c.6707G>T	XP_016873269.1:p.Ser2236Ile
XM_017017784.1:c.6590G>T	XP_016873273.1:p.Ser2197Ile
XM_017017788.1:c.6593G>T	XP_016873277.1:p.Ser2198Ile
XR_001747885.1:n.6696G>T
XR_001747887.1:n.6682G>T
NM_000260.4:c.6617G>T MANE Select	NP_000251.3:p.Ser2206Ile
NM_001127180.2:c.6497G>T	NP_001120652.1:p.Ser2166Ile
NM_001369365.1:c.6470G>T	NP_001356294.1:p.Ser2157Ile