Canonical Allele Identifier: CA381935592

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211182-A-G
• MyVariant Identifiers: chr11:g.76922227A>G (hg19) ; chr11:g.77211182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211182A>G , CM000673.2:g.77211182A>G	GRCh38
NC_000011.9:g.76922227A>G , CM000673.1:g.76922227A>G	GRCh37
NC_000011.8:g.76599875A>G	NCBI36
NG_009086.1:g.87918A>G
NG_009086.2:g.87937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6082A>G MANE Select	ENSP00000386331.3:p.Lys2028Glu
ENST00000670577.1:c.3883A>G
ENST00000409619.6:c.5935A>G	ENSP00000386635.2:p.Lys1979Glu
ENST00000409709.7:c.6082A>G	ENSP00000386331.3:p.Lys2028Glu
ENST00000458169.2:c.3508A>G	ENSP00000417017.2:p.Lys1170Glu
ENST00000458637.6:c.5968A>G	ENSP00000392185.2:p.Lys1990Glu
ENST00000481328.7:n.3618A>G
ENST00000526863.2:n.25+271A>G
ENST00000605744.1:n.1549A>G
NM_000260.3:c.6082A>G	NP_000251.3:p.Lys2028Glu
NM_001127180.1:c.5968A>G	NP_001120652.1:p.Lys1990Glu
XM_005274012.2:c.5965A>G	XP_005274069.1:p.Lys1989Glu
XM_006718558.2:c.6073A>G	XP_006718621.1:p.Lys2025Glu
XM_006718559.2:c.5968A>G	XP_006718622.1:p.Lys1990Glu
XM_006718560.2:c.5965A>G	XP_006718623.1:p.Lys1989Glu
XM_006718561.2:c.5968A>G	XP_006718624.1:p.Lys1990Glu
XM_011545044.1:c.6082A>G	XP_011543346.1:p.Lys2028Glu
XM_011545045.1:c.6076A>G	XP_011543347.1:p.Lys2026Glu
XM_011545046.1:c.6049A>G	XP_011543348.1:p.Lys2017Glu
XM_011545047.1:c.5986A>G	XP_011543349.1:p.Lys1996Glu
XM_011545048.1:c.5857A>G	XP_011543350.1:p.Lys1953Glu
XM_011545049.1:c.5845A>G	XP_011543351.1:p.Lys1949Glu
XM_011545050.1:c.5818A>G	XP_011543352.1:p.Lys1940Glu
XM_011545051.1:c.6082A>G	XP_011543353.1:p.Lys2028Glu
XR_949938.1:n.6402A>G
XR_949941.1:n.6376A>G
XM_011545044.2:c.6082A>G	XP_011543346.1:p.Lys2028Glu
XM_011545046.2:c.6172A>G	XP_011543348.2:p.Lys2058Glu
XM_011545050.2:c.5818A>G	XP_011543352.1:p.Lys1940Glu
XM_017017778.1:c.6166A>G	XP_016873267.1:p.Lys2056Glu
XM_017017779.1:c.6163A>G	XP_016873268.1:p.Lys2055Glu
XM_017017780.1:c.6172A>G	XP_016873269.1:p.Lys2058Glu
XM_017017781.1:c.6076A>G	XP_016873270.1:p.Lys2026Glu
XM_017017782.1:c.6058A>G	XP_016873271.1:p.Lys2020Glu
XM_017017783.1:c.6055A>G	XP_016873272.1:p.Lys2019Glu
XM_017017784.1:c.6055A>G	XP_016873273.1:p.Lys2019Glu
XM_017017785.1:c.5935A>G	XP_016873274.1:p.Lys1979Glu
XM_017017786.1:c.6172A>G	XP_016873275.1:p.Lys2058Glu
XM_017017788.1:c.6058A>G	XP_016873277.1:p.Lys2020Glu
XR_001747885.1:n.6161A>G
XR_001747886.1:n.6102A>G
XR_001747887.1:n.6147A>G
NM_000260.4:c.6082A>G MANE Select	NP_000251.3:p.Lys2028Glu
NM_001127180.2:c.5968A>G	NP_001120652.1:p.Lys1990Glu
NM_001369365.1:c.5935A>G	NP_001356294.1:p.Lys1979Glu