Canonical Allele Identifier: CA381954001

Gene: MYO7A

Linked Data

• ClinVar Variation Id: 864590
• ClinVar RCV Id: RCV001071812
• dbSNP Id: rs1957512851
• MyVariant Identifiers: chr11:g.76918376C>T (hg19) ; chr11:g.77207331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77207331C>T , CM000673.2:g.77207331C>T	GRCh38
NC_000011.9:g.76918376C>T , CM000673.1:g.76918376C>T	GRCh37
NC_000011.8:g.76596024C>T	NCBI36
NG_009086.1:g.84067C>T
NG_009086.2:g.84086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5785C>T MANE Select	ENSP00000386331.3:p.Gln1929Ter
ENST00000670577.1:c.3612C>T
ENST00000409619.6:c.5638C>T	ENSP00000386635.2:p.Gln1880Ter
ENST00000409709.7:c.5785C>T	ENSP00000386331.3:p.Gln1929Ter
ENST00000458169.2:c.3211C>T	ENSP00000417017.2:p.Gln1071Ter
ENST00000458637.6:c.5671C>T	ENSP00000392185.2:p.Gln1891Ter
ENST00000481328.7:n.3321C>T
ENST00000605744.1:n.699C>T
NM_000260.3:c.5785C>T	NP_000251.3:p.Gln1929Ter
NM_001127180.1:c.5671C>T	NP_001120652.1:p.Gln1891Ter
XM_005274012.2:c.5668C>T	XP_005274069.1:p.Gln1890Ter
XM_006718558.2:c.5776C>T	XP_006718621.1:p.Gln1926Ter
XM_006718559.2:c.5671C>T	XP_006718622.1:p.Gln1891Ter
XM_006718560.2:c.5668C>T	XP_006718623.1:p.Gln1890Ter
XM_006718561.2:c.5671C>T	XP_006718624.1:p.Gln1891Ter
XM_011545044.1:c.5785C>T	XP_011543346.1:p.Gln1929Ter
XM_011545045.1:c.5779C>T	XP_011543347.1:p.Gln1927Ter
XM_011545046.1:c.5752C>T	XP_011543348.1:p.Gln1918Ter
XM_011545047.1:c.5689C>T	XP_011543349.1:p.Gln1897Ter
XM_011545048.1:c.5560C>T	XP_011543350.1:p.Gln1854Ter
XM_011545049.1:c.5548C>T	XP_011543351.1:p.Gln1850Ter
XM_011545050.1:c.5521C>T	XP_011543352.1:p.Gln1841Ter
XM_011545051.1:c.5785C>T	XP_011543353.1:p.Gln1929Ter
XR_949938.1:n.6105C>T
XR_949941.1:n.6105C>T
XM_011545044.2:c.5785C>T	XP_011543346.1:p.Gln1929Ter
XM_011545046.2:c.5875C>T	XP_011543348.2:p.Gln1959Ter
XM_011545050.2:c.5521C>T	XP_011543352.1:p.Gln1841Ter
XM_017017778.1:c.5869C>T	XP_016873267.1:p.Gln1957Ter
XM_017017779.1:c.5866C>T	XP_016873268.1:p.Gln1956Ter
XM_017017780.1:c.5875C>T	XP_016873269.1:p.Gln1959Ter
XM_017017781.1:c.5779C>T	XP_016873270.1:p.Gln1927Ter
XM_017017782.1:c.5761C>T	XP_016873271.1:p.Gln1921Ter
XM_017017783.1:c.5758C>T	XP_016873272.1:p.Gln1920Ter
XM_017017784.1:c.5758C>T	XP_016873273.1:p.Gln1920Ter
XM_017017785.1:c.5638C>T	XP_016873274.1:p.Gln1880Ter
XM_017017786.1:c.5875C>T	XP_016873275.1:p.Gln1959Ter
XM_017017788.1:c.5761C>T	XP_016873277.1:p.Gln1921Ter
XR_001747885.1:n.5890C>T
XR_001747886.1:n.5805C>T
XR_001747887.1:n.5876C>T
NM_000260.4:c.5785C>T MANE Select	NP_000251.3:p.Gln1929Ter
NM_001127180.2:c.5671C>T	NP_001120652.1:p.Gln1891Ter
NM_001369365.1:c.5638C>T	NP_001356294.1:p.Gln1880Ter