Canonical Allele Identifier: CA600350340

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 2853218
• ClinVar RCV Id: RCV003695922
• dbSNP Id: rs1329000248
• gnomAD v2: 11-76918319-C-T
• gnomAD v4: 11-77207274-C-T
• MyVariant Identifiers: chr11:g.76918319C>T (hg19) ; chr11:g.77207274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207274C>T , CM000673.2:g.77207274C>T	GRCh38
NC_000011.9:g.76918319C>T , CM000673.1:g.76918319C>T	GRCh37
NC_000011.8:g.76595967C>T	NCBI36
NG_009086.1:g.84010C>T
NG_009086.2:g.84029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5743-15C>T MANE Select	ENSP00000386331.3:n.5743-15C>T
ENST00000670577.1:c.3570-15C>T
ENST00000409619.6:c.5596-15C>T	ENSP00000386635.2:n.5596-15C>T
ENST00000409709.7:c.5743-15C>T	ENSP00000386331.3:n.5743-15C>T
ENST00000458169.2:c.3169-15C>T	ENSP00000417017.2:n.3169-15C>T
ENST00000458637.6:c.5629-15C>T	ENSP00000392185.2:n.5629-15C>T
ENST00000481328.7:n.3279-15C>T
ENST00000605744.1:n.642C>T
NM_000260.3:c.5743-15C>T	NP_000251.3:n.5743-15C>T
NM_001127180.1:c.5629-15C>T	NP_001120652.1:n.5629-15C>T
XM_005274012.2:c.5626-15C>T	XP_005274069.1:n.5626-15C>T
XM_006718558.2:c.5734-15C>T	XP_006718621.1:n.5734-15C>T
XM_006718559.2:c.5629-15C>T	XP_006718622.1:n.5629-15C>T
XM_006718560.2:c.5626-15C>T	XP_006718623.1:n.5626-15C>T
XM_006718561.2:c.5629-15C>T	XP_006718624.1:n.5629-15C>T
XM_011545044.1:c.5743-15C>T	XP_011543346.1:n.5743-15C>T
XM_011545045.1:c.5737-15C>T	XP_011543347.1:n.5737-15C>T
XM_011545046.1:c.5710-15C>T	XP_011543348.1:n.5710-15C>T
XM_011545047.1:c.5647-15C>T	XP_011543349.1:n.5647-15C>T
XM_011545048.1:c.5518-15C>T	XP_011543350.1:n.5518-15C>T
XM_011545049.1:c.5506-15C>T	XP_011543351.1:n.5506-15C>T
XM_011545050.1:c.5479-15C>T	XP_011543352.1:n.5479-15C>T
XM_011545051.1:c.5743-15C>T	XP_011543353.1:n.5743-15C>T
XR_949938.1:n.6063-15C>T
XR_949941.1:n.6063-15C>T
XM_011545044.2:c.5743-15C>T	XP_011543346.1:n.5743-15C>T
XM_011545046.2:c.5833-15C>T	XP_011543348.2:n.5833-15C>T
XM_011545050.2:c.5479-15C>T	XP_011543352.1:n.5479-15C>T
XM_017017778.1:c.5827-15C>T	XP_016873267.1:n.5827-15C>T
XM_017017779.1:c.5824-15C>T	XP_016873268.1:n.5824-15C>T
XM_017017780.1:c.5833-15C>T	XP_016873269.1:n.5833-15C>T
XM_017017781.1:c.5737-15C>T	XP_016873270.1:n.5737-15C>T
XM_017017782.1:c.5719-15C>T	XP_016873271.1:n.5719-15C>T
XM_017017783.1:c.5716-15C>T	XP_016873272.1:n.5716-15C>T
XM_017017784.1:c.5716-15C>T	XP_016873273.1:n.5716-15C>T
XM_017017785.1:c.5596-15C>T	XP_016873274.1:n.5596-15C>T
XM_017017786.1:c.5833-15C>T	XP_016873275.1:n.5833-15C>T
XM_017017788.1:c.5719-15C>T	XP_016873277.1:n.5719-15C>T
XR_001747885.1:n.5848-15C>T
XR_001747886.1:n.5763-15C>T
XR_001747887.1:n.5834-15C>T
NM_000260.4:c.5743-15C>T MANE Select	NP_000251.3:n.5743-15C>T
NM_001127180.2:c.5629-15C>T	NP_001120652.1:n.5629-15C>T
NM_001369365.1:c.5596-15C>T	NP_001356294.1:n.5596-15C>T