Canonical Allele Identifier: CA475791964

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922277C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211232C>T , CM000673.2:g.77211232C>T	GRCh38
NC_000011.9:g.76922277C>T , CM000673.1:g.76922277C>T	GRCh37
NC_000011.8:g.76599925C>T	NCBI36
NG_009086.1:g.87968C>T
NG_009086.2:g.87987C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6132C>T MANE Select	ENSP00000386331.3:p.Val2044=
ENST00000670577.1:c.3933C>T
ENST00000409619.6:c.5985C>T	ENSP00000386635.2:p.Val1995=
ENST00000409709.7:c.6132C>T	ENSP00000386331.3:p.Val2044=
ENST00000458169.2:c.3558C>T	ENSP00000417017.2:p.Val1186=
ENST00000458637.6:c.6018C>T	ENSP00000392185.2:p.Val2006=
ENST00000481328.7:n.3668C>T
ENST00000526863.2:n.25+321C>T
ENST00000605744.1:n.1599C>T
NM_000260.3:c.6132C>T	NP_000251.3:p.Val2044=
NM_001127180.1:c.6018C>T	NP_001120652.1:p.Val2006=
XM_005274012.2:c.6015C>T	XP_005274069.1:p.Val2005=
XM_006718558.2:c.6123C>T	XP_006718621.1:p.Val2041=
XM_006718559.2:c.6018C>T	XP_006718622.1:p.Val2006=
XM_006718560.2:c.6015C>T	XP_006718623.1:p.Val2005=
XM_006718561.2:c.6018C>T	XP_006718624.1:p.Val2006=
XM_011545044.1:c.6132C>T	XP_011543346.1:p.Val2044=
XM_011545045.1:c.6126C>T	XP_011543347.1:p.Val2042=
XM_011545046.1:c.6099C>T	XP_011543348.1:p.Val2033=
XM_011545047.1:c.6036C>T	XP_011543349.1:p.Val2012=
XM_011545048.1:c.5907C>T	XP_011543350.1:p.Val1969=
XM_011545049.1:c.5895C>T	XP_011543351.1:p.Val1965=
XM_011545050.1:c.5868C>T	XP_011543352.1:p.Val1956=
XM_011545051.1:c.6132C>T	XP_011543353.1:p.Val2044=
XR_949938.1:n.6452C>T
XR_949941.1:n.6426C>T
XM_011545044.2:c.6132C>T	XP_011543346.1:p.Val2044=
XM_011545046.2:c.6222C>T	XP_011543348.2:p.Val2074=
XM_011545050.2:c.5868C>T	XP_011543352.1:p.Val1956=
XM_017017778.1:c.6216C>T	XP_016873267.1:p.Val2072=
XM_017017779.1:c.6213C>T	XP_016873268.1:p.Val2071=
XM_017017780.1:c.6222C>T	XP_016873269.1:p.Val2074=
XM_017017781.1:c.6126C>T	XP_016873270.1:p.Val2042=
XM_017017782.1:c.6108C>T	XP_016873271.1:p.Val2036=
XM_017017783.1:c.6105C>T	XP_016873272.1:p.Val2035=
XM_017017784.1:c.6105C>T	XP_016873273.1:p.Val2035=
XM_017017785.1:c.5985C>T	XP_016873274.1:p.Val1995=
XM_017017786.1:c.6222C>T	XP_016873275.1:p.Val2074=
XM_017017788.1:c.6108C>T	XP_016873277.1:p.Val2036=
XR_001747885.1:n.6211C>T
XR_001747886.1:n.6152C>T
XR_001747887.1:n.6197C>T
NM_000260.4:c.6132C>T MANE Select	NP_000251.3:p.Val2044=
NM_001127180.2:c.6018C>T	NP_001120652.1:p.Val2006=
NM_001369365.1:c.5985C>T	NP_001356294.1:p.Val1995=