Canonical Allele Identifier: CA600343596

Gene: MYO7A

Linked Data

• dbSNP Id: rs1449105293
• gnomAD v2: 11-76922455-C-A
• gnomAD v3: 11-77211410-C-A
• gnomAD v4: 11-77211410-C-A
• MyVariant Identifiers: chr11:g.76922455C>A (hg19) ; chr11:g.77211410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211410C>A , CM000673.2:g.77211410C>A	GRCh38
NC_000011.9:g.76922455C>A , CM000673.1:g.76922455C>A	GRCh37
NC_000011.8:g.76600103C>A	NCBI36
NG_009086.1:g.88146C>A
NG_009086.2:g.88165C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6237+73C>A MANE Select	ENSP00000386331.3:n.6237+73C>A
ENST00000670577.1:c.4038+73C>A
ENST00000409619.6:c.6090+73C>A	ENSP00000386635.2:n.6090+73C>A
ENST00000409709.7:c.6237+73C>A	ENSP00000386331.3:n.6237+73C>A
ENST00000458169.2:c.3663+73C>A	ENSP00000417017.2:n.3663+73C>A
ENST00000458637.6:c.6123+73C>A	ENSP00000392185.2:n.6123+73C>A
ENST00000481328.7:n.3773+73C>A
ENST00000526863.2:n.25+499C>A
ENST00000605744.1:n.1704+73C>A
NM_000260.3:c.6237+73C>A	NP_000251.3:n.6237+73C>A
NM_001127180.1:c.6123+73C>A	NP_001120652.1:n.6123+73C>A
XM_005274012.2:c.6120+73C>A	XP_005274069.1:n.6120+73C>A
XM_006718558.2:c.6228+73C>A	XP_006718621.1:n.6228+73C>A
XM_006718559.2:c.6123+73C>A	XP_006718622.1:n.6123+73C>A
XM_006718560.2:c.6120+73C>A	XP_006718623.1:n.6120+73C>A
XM_006718561.2:c.6123+73C>A	XP_006718624.1:n.6123+73C>A
XM_011545044.1:c.6237+73C>A	XP_011543346.1:n.6237+73C>A
XM_011545045.1:c.6231+73C>A	XP_011543347.1:n.6231+73C>A
XM_011545046.1:c.6204+73C>A	XP_011543348.1:n.6204+73C>A
XM_011545047.1:c.6141+73C>A	XP_011543349.1:n.6141+73C>A
XM_011545048.1:c.6012+73C>A	XP_011543350.1:n.6012+73C>A
XM_011545049.1:c.6000+73C>A	XP_011543351.1:n.6000+73C>A
XM_011545050.1:c.5973+73C>A	XP_011543352.1:n.5973+73C>A
XM_011545051.1:c.6237+73C>A	XP_011543353.1:n.6237+73C>A
XR_949938.1:n.6557+73C>A
XR_949941.1:n.6531+73C>A
XM_011545044.2:c.6237+73C>A	XP_011543346.1:n.6237+73C>A
XM_011545046.2:c.6327+73C>A	XP_011543348.2:n.6327+73C>A
XM_011545050.2:c.5973+73C>A	XP_011543352.1:n.5973+73C>A
XM_017017778.1:c.6321+73C>A	XP_016873267.1:n.6321+73C>A
XM_017017779.1:c.6318+73C>A	XP_016873268.1:n.6318+73C>A
XM_017017780.1:c.6327+73C>A	XP_016873269.1:n.6327+73C>A
XM_017017781.1:c.6231+73C>A	XP_016873270.1:n.6231+73C>A
XM_017017782.1:c.6213+73C>A	XP_016873271.1:n.6213+73C>A
XM_017017783.1:c.6210+73C>A	XP_016873272.1:n.6210+73C>A
XM_017017784.1:c.6210+73C>A	XP_016873273.1:n.6210+73C>A
XM_017017785.1:c.6090+73C>A	XP_016873274.1:n.6090+73C>A
XM_017017786.1:c.6327+73C>A	XP_016873275.1:n.6327+73C>A
XM_017017788.1:c.6213+73C>A	XP_016873277.1:n.6213+73C>A
XR_001747885.1:n.6316+73C>A
XR_001747887.1:n.6302+73C>A
NM_000260.4:c.6237+73C>A MANE Select	NP_000251.3:n.6237+73C>A
NM_001127180.2:c.6123+73C>A	NP_001120652.1:n.6123+73C>A
NM_001369365.1:c.6090+73C>A	NP_001356294.1:n.6090+73C>A