Canonical Allele Identifier: CA2573147850

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214594C>G , CM000673.2:g.77214594C>G	GRCh38
NC_000011.9:g.76925639C>G , CM000673.1:g.76925639C>G	GRCh37
NC_000011.8:g.76603287C>G	NCBI36
NG_009086.1:g.91330C>G
NG_009086.2:g.91349C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.6559-13C>G MANE Select	NP_000251.3:n.6559-13C>G
ENST00000409709.9:c.6559-13C>G MANE Select	ENSP00000386331.3:n.6559-13C>G
NM_000260.3:c.6559-13C>G	NP_000251.3:n.6559-13C>G
NM_001127180.1:c.6439-13C>G	NP_001120652.1:n.6439-13C>G
NM_001127180.2:c.6439-13C>G	NP_001120652.1:n.6439-13C>G
NM_001369365.1:c.6412-13C>G	NP_001356294.1:n.6412-13C>G
ENST00000409619.6:c.6412-13C>G	ENSP00000386635.2:n.6412-13C>G
ENST00000409709.7:c.6559-13C>G	ENSP00000386331.3:n.6559-13C>G
ENST00000458169.2:c.3985-13C>G	ENSP00000417017.2:n.3985-13C>G
ENST00000458637.6:c.6439-13C>G	ENSP00000392185.2:n.6439-13C>G
ENST00000481328.7:n.5109-13C>G
ENST00000605744.1:n.2073-13C>G
ENST00000670577.1:c.4360-13C>G
XM_005274012.2:c.6442-13C>G	XP_005274069.1:n.6442-13C>G
XM_006718561.2:c.6445-13C>G	XP_006718624.1:n.6445-13C>G
XM_017017780.1:c.6649-13C>G	XP_016873269.1:n.6649-13C>G
XM_017017784.1:c.6532-13C>G	XP_016873273.1:n.6532-13C>G
XM_017017788.1:c.6535-13C>G	XP_016873277.1:n.6535-13C>G
XR_001747885.1:n.6638-13C>G
XR_001747887.1:n.6624-13C>G
XR_949941.1:n.6853-13C>G