Canonical Allele Identifier: CA6198687

Gene: MYO7A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77204094G>C , CM000673.2:g.77204094G>C	GRCh38
NC_000011.9:g.76915139G>C , CM000673.1:g.76915139G>C	GRCh37
NC_000011.8:g.76592787G>C	NCBI36
NG_009086.1:g.80830G>C
NG_009086.2:g.80849G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000260.4:c.5345G>C MANE Select	NP_000251.3:p.Gly1782Ala
ENST00000409709.9:c.5345G>C MANE Select	ENSP00000386331.3:p.Gly1782Ala
NM_000260.3:c.5345G>C	NP_000251.3:p.Gly1782Ala
NM_001127180.1:c.5231G>C	NP_001120652.1:p.Gly1744Ala
NM_001127180.2:c.5231G>C	NP_001120652.1:p.Gly1744Ala
NM_001369365.1:c.5198G>C	NP_001356294.1:p.Gly1733Ala
ENST00000409619.6:c.5198G>C	ENSP00000386635.2:p.Gly1733Ala
ENST00000409709.7:c.5345G>C	ENSP00000386331.3:p.Gly1782Ala
ENST00000458169.2:c.2771G>C	ENSP00000417017.2:p.Gly924Ala
ENST00000458637.6:c.5231G>C	ENSP00000392185.2:p.Gly1744Ala
ENST00000481328.7:n.2881G>C
ENST00000605744.1:n.51G>C
ENST00000670577.1:c.3172G>C
XM_005274012.2:c.5228G>C	XP_005274069.1:p.Gly1743Ala
XM_006718558.2:c.5336G>C	XP_006718621.1:p.Gly1779Ala
XM_006718559.2:c.5231G>C	XP_006718622.1:p.Gly1744Ala
XM_006718560.2:c.5228G>C	XP_006718623.1:p.Gly1743Ala
XM_006718561.2:c.5231G>C	XP_006718624.1:p.Gly1744Ala
XM_011545044.1:c.5345G>C	XP_011543346.1:p.Gly1782Ala
XM_011545044.2:c.5345G>C	XP_011543346.1:p.Gly1782Ala
XM_011545045.1:c.5339G>C	XP_011543347.1:p.Gly1780Ala
XM_011545046.1:c.5312G>C	XP_011543348.1:p.Gly1771Ala
XM_011545046.2:c.5435G>C	XP_011543348.2:p.Gly1812Ala
XM_011545047.1:c.5249G>C	XP_011543349.1:p.Gly1750Ala
XM_011545048.1:c.5120G>C	XP_011543350.1:p.Gly1707Ala
XM_011545049.1:c.5108G>C	XP_011543351.1:p.Gly1703Ala
XM_011545050.1:c.5081G>C	XP_011543352.1:p.Gly1694Ala
XM_011545050.2:c.5081G>C	XP_011543352.1:p.Gly1694Ala
XM_011545051.1:c.5345G>C	XP_011543353.1:p.Gly1782Ala
XM_011545052.1:c.5345G>C	XP_011543354.1:p.Gly1782Ala
XM_017017778.1:c.5429G>C	XP_016873267.1:p.Gly1810Ala
XM_017017779.1:c.5426G>C	XP_016873268.1:p.Gly1809Ala
XM_017017780.1:c.5435G>C	XP_016873269.1:p.Gly1812Ala
XM_017017781.1:c.5339G>C	XP_016873270.1:p.Gly1780Ala
XM_017017782.1:c.5321G>C	XP_016873271.1:p.Gly1774Ala
XM_017017783.1:c.5318G>C	XP_016873272.1:p.Gly1773Ala
XM_017017784.1:c.5318G>C	XP_016873273.1:p.Gly1773Ala
XM_017017785.1:c.5198G>C	XP_016873274.1:p.Gly1733Ala
XM_017017786.1:c.5435G>C	XP_016873275.1:p.Gly1812Ala
XM_017017788.1:c.5321G>C	XP_016873277.1:p.Gly1774Ala
XR_001747885.1:n.5450G>C
XR_001747886.1:n.5450G>C
XR_001747887.1:n.5436G>C
XR_001747888.1:n.5436G>C
XR_949938.1:n.5665G>C
XR_949941.1:n.5665G>C
XR_949942.1:n.5653G>C