Canonical Allele Identifier: CA381934651

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76919828T>C (hg19) ; chr11:g.77208783T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208783T>C , CM000673.2:g.77208783T>C	GRCh38
NC_000011.9:g.76919828T>C , CM000673.1:g.76919828T>C	GRCh37
NC_000011.8:g.76597476T>C	NCBI36
NG_009086.1:g.85519T>C
NG_009086.2:g.85538T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6031T>C MANE Select	ENSP00000386331.3:p.Ser2011Pro
ENST00000670577.1:c.3832T>C
ENST00000409619.6:c.5884T>C	ENSP00000386635.2:p.Ser1962Pro
ENST00000409709.7:c.6031T>C	ENSP00000386331.3:p.Ser2011Pro
ENST00000458169.2:c.3457T>C	ENSP00000417017.2:p.Ser1153Pro
ENST00000458637.6:c.5917T>C	ENSP00000392185.2:p.Ser1973Pro
ENST00000481328.7:n.3567T>C
ENST00000605744.1:n.945T>C
NM_000260.3:c.6031T>C	NP_000251.3:p.Ser2011Pro
NM_001127180.1:c.5917T>C	NP_001120652.1:p.Ser1973Pro
XM_005274012.2:c.5914T>C	XP_005274069.1:p.Ser1972Pro
XM_006718558.2:c.6022T>C	XP_006718621.1:p.Ser2008Pro
XM_006718559.2:c.5917T>C	XP_006718622.1:p.Ser1973Pro
XM_006718560.2:c.5914T>C	XP_006718623.1:p.Ser1972Pro
XM_006718561.2:c.5917T>C	XP_006718624.1:p.Ser1973Pro
XM_011545044.1:c.6031T>C	XP_011543346.1:p.Ser2011Pro
XM_011545045.1:c.6025T>C	XP_011543347.1:p.Ser2009Pro
XM_011545046.1:c.5998T>C	XP_011543348.1:p.Ser2000Pro
XM_011545047.1:c.5935T>C	XP_011543349.1:p.Ser1979Pro
XM_011545048.1:c.5806T>C	XP_011543350.1:p.Ser1936Pro
XM_011545049.1:c.5794T>C	XP_011543351.1:p.Ser1932Pro
XM_011545050.1:c.5767T>C	XP_011543352.1:p.Ser1923Pro
XM_011545051.1:c.6031T>C	XP_011543353.1:p.Ser2011Pro
XR_949938.1:n.6351T>C
XR_949941.1:n.6325T>C
XM_011545044.2:c.6031T>C	XP_011543346.1:p.Ser2011Pro
XM_011545046.2:c.6121T>C	XP_011543348.2:p.Ser2041Pro
XM_011545050.2:c.5767T>C	XP_011543352.1:p.Ser1923Pro
XM_017017778.1:c.6115T>C	XP_016873267.1:p.Ser2039Pro
XM_017017779.1:c.6112T>C	XP_016873268.1:p.Ser2038Pro
XM_017017780.1:c.6121T>C	XP_016873269.1:p.Ser2041Pro
XM_017017781.1:c.6025T>C	XP_016873270.1:p.Ser2009Pro
XM_017017782.1:c.6007T>C	XP_016873271.1:p.Ser2003Pro
XM_017017783.1:c.6004T>C	XP_016873272.1:p.Ser2002Pro
XM_017017784.1:c.6004T>C	XP_016873273.1:p.Ser2002Pro
XM_017017785.1:c.5884T>C	XP_016873274.1:p.Ser1962Pro
XM_017017786.1:c.6121T>C	XP_016873275.1:p.Ser2041Pro
XM_017017788.1:c.6007T>C	XP_016873277.1:p.Ser2003Pro
XR_001747885.1:n.6110T>C
XR_001747886.1:n.6051T>C
XR_001747887.1:n.6096T>C
NM_000260.4:c.6031T>C MANE Select	NP_000251.3:p.Ser2011Pro
NM_001127180.2:c.5917T>C	NP_001120652.1:p.Ser1973Pro
NM_001369365.1:c.5884T>C	NP_001356294.1:p.Ser1962Pro