Canonical Allele Identifier: CA381935820

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922267T>G (hg19) ; chr11:g.77211222T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211222T>G , CM000673.2:g.77211222T>G	GRCh38
NC_000011.9:g.76922267T>G , CM000673.1:g.76922267T>G	GRCh37
NC_000011.8:g.76599915T>G	NCBI36
NG_009086.1:g.87958T>G
NG_009086.2:g.87977T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6122T>G MANE Select	ENSP00000386331.3:p.Ile2041Ser
ENST00000670577.1:c.3923T>G
ENST00000409619.6:c.5975T>G	ENSP00000386635.2:p.Ile1992Ser
ENST00000409709.7:c.6122T>G	ENSP00000386331.3:p.Ile2041Ser
ENST00000458169.2:c.3548T>G	ENSP00000417017.2:p.Ile1183Ser
ENST00000458637.6:c.6008T>G	ENSP00000392185.2:p.Ile2003Ser
ENST00000481328.7:n.3658T>G
ENST00000526863.2:n.25+311T>G
ENST00000605744.1:n.1589T>G
NM_000260.3:c.6122T>G	NP_000251.3:p.Ile2041Ser
NM_001127180.1:c.6008T>G	NP_001120652.1:p.Ile2003Ser
XM_005274012.2:c.6005T>G	XP_005274069.1:p.Ile2002Ser
XM_006718558.2:c.6113T>G	XP_006718621.1:p.Ile2038Ser
XM_006718559.2:c.6008T>G	XP_006718622.1:p.Ile2003Ser
XM_006718560.2:c.6005T>G	XP_006718623.1:p.Ile2002Ser
XM_006718561.2:c.6008T>G	XP_006718624.1:p.Ile2003Ser
XM_011545044.1:c.6122T>G	XP_011543346.1:p.Ile2041Ser
XM_011545045.1:c.6116T>G	XP_011543347.1:p.Ile2039Ser
XM_011545046.1:c.6089T>G	XP_011543348.1:p.Ile2030Ser
XM_011545047.1:c.6026T>G	XP_011543349.1:p.Ile2009Ser
XM_011545048.1:c.5897T>G	XP_011543350.1:p.Ile1966Ser
XM_011545049.1:c.5885T>G	XP_011543351.1:p.Ile1962Ser
XM_011545050.1:c.5858T>G	XP_011543352.1:p.Ile1953Ser
XM_011545051.1:c.6122T>G	XP_011543353.1:p.Ile2041Ser
XR_949938.1:n.6442T>G
XR_949941.1:n.6416T>G
XM_011545044.2:c.6122T>G	XP_011543346.1:p.Ile2041Ser
XM_011545046.2:c.6212T>G	XP_011543348.2:p.Ile2071Ser
XM_011545050.2:c.5858T>G	XP_011543352.1:p.Ile1953Ser
XM_017017778.1:c.6206T>G	XP_016873267.1:p.Ile2069Ser
XM_017017779.1:c.6203T>G	XP_016873268.1:p.Ile2068Ser
XM_017017780.1:c.6212T>G	XP_016873269.1:p.Ile2071Ser
XM_017017781.1:c.6116T>G	XP_016873270.1:p.Ile2039Ser
XM_017017782.1:c.6098T>G	XP_016873271.1:p.Ile2033Ser
XM_017017783.1:c.6095T>G	XP_016873272.1:p.Ile2032Ser
XM_017017784.1:c.6095T>G	XP_016873273.1:p.Ile2032Ser
XM_017017785.1:c.5975T>G	XP_016873274.1:p.Ile1992Ser
XM_017017786.1:c.6212T>G	XP_016873275.1:p.Ile2071Ser
XM_017017788.1:c.6098T>G	XP_016873277.1:p.Ile2033Ser
XR_001747885.1:n.6201T>G
XR_001747886.1:n.6142T>G
XR_001747887.1:n.6187T>G
NM_000260.4:c.6122T>G MANE Select	NP_000251.3:p.Ile2041Ser
NM_001127180.2:c.6008T>G	NP_001120652.1:p.Ile2003Ser
NM_001369365.1:c.5975T>G	NP_001356294.1:p.Ile1992Ser