Canonical Allele Identifier: CA475792738

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77214612-C-T
• MyVariant Identifiers: chr11:g.76925657C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214612C>T , CM000673.2:g.77214612C>T	GRCh38
NC_000011.9:g.76925657C>T , CM000673.1:g.76925657C>T	GRCh37
NC_000011.8:g.76603305C>T	NCBI36
NG_009086.1:g.91348C>T
NG_009086.2:g.91367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6564C>T MANE Select	ENSP00000386331.3:p.Tyr2188=
ENST00000670577.1:c.4365C>T
ENST00000409619.6:c.6417C>T	ENSP00000386635.2:p.Tyr2139=
ENST00000409709.7:c.6564C>T	ENSP00000386331.3:p.Tyr2188=
ENST00000458169.2:c.3990C>T	ENSP00000417017.2:p.Tyr1330=
ENST00000458637.6:c.6444C>T	ENSP00000392185.2:p.Tyr2148=
ENST00000481328.7:n.5114C>T
ENST00000605744.1:n.2078C>T
NM_000260.3:c.6564C>T	NP_000251.3:p.Tyr2188=
NM_001127180.1:c.6444C>T	NP_001120652.1:p.Tyr2148=
XM_005274012.2:c.6447C>T	XP_005274069.1:p.Tyr2149=
XM_006718561.2:c.6450C>T	XP_006718624.1:p.Tyr2150=
XR_949941.1:n.6858C>T
XM_017017780.1:c.6654C>T	XP_016873269.1:p.Tyr2218=
XM_017017784.1:c.6537C>T	XP_016873273.1:p.Tyr2179=
XM_017017788.1:c.6540C>T	XP_016873277.1:p.Tyr2180=
XR_001747885.1:n.6643C>T
XR_001747887.1:n.6629C>T
NM_000260.4:c.6564C>T MANE Select	NP_000251.3:p.Tyr2188=
NM_001127180.2:c.6444C>T	NP_001120652.1:p.Tyr2148=
NM_001369365.1:c.6417C>T	NP_001356294.1:p.Tyr2139=