Canonical Allele Identifier: CA381934091

Gene: MYO7A

Linked Data

• gnomAD v3: 11-77208714-A-T
• gnomAD v4: 11-77208714-A-T
• MyVariant Identifiers: chr11:g.76919759A>T (hg19) ; chr11:g.77208714A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77208714A>T , CM000673.2:g.77208714A>T	GRCh38
NC_000011.9:g.76919759A>T , CM000673.1:g.76919759A>T	GRCh37
NC_000011.8:g.76597407A>T	NCBI36
NG_009086.1:g.85450A>T
NG_009086.2:g.85469A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.5962A>T MANE Select	ENSP00000386331.3:p.Thr1988Ser
ENST00000670577.1:c.3772-9A>T
ENST00000409619.6:c.5815A>T	ENSP00000386635.2:p.Thr1939Ser
ENST00000409709.7:c.5962A>T	ENSP00000386331.3:p.Thr1988Ser
ENST00000458169.2:c.3388A>T	ENSP00000417017.2:p.Thr1130Ser
ENST00000458637.6:c.5848A>T	ENSP00000392185.2:p.Thr1950Ser
ENST00000481328.7:n.3498A>T
ENST00000605744.1:n.876A>T
NM_000260.3:c.5962A>T	NP_000251.3:p.Thr1988Ser
NM_001127180.1:c.5848A>T	NP_001120652.1:p.Thr1950Ser
XM_005274012.2:c.5845A>T	XP_005274069.1:p.Thr1949Ser
XM_006718558.2:c.5953A>T	XP_006718621.1:p.Thr1985Ser
XM_006718559.2:c.5848A>T	XP_006718622.1:p.Thr1950Ser
XM_006718560.2:c.5845A>T	XP_006718623.1:p.Thr1949Ser
XM_006718561.2:c.5848A>T	XP_006718624.1:p.Thr1950Ser
XM_011545044.1:c.5962A>T	XP_011543346.1:p.Thr1988Ser
XM_011545045.1:c.5956A>T	XP_011543347.1:p.Thr1986Ser
XM_011545046.1:c.5929A>T	XP_011543348.1:p.Thr1977Ser
XM_011545047.1:c.5866A>T	XP_011543349.1:p.Thr1956Ser
XM_011545048.1:c.5737A>T	XP_011543350.1:p.Thr1913Ser
XM_011545049.1:c.5725A>T	XP_011543351.1:p.Thr1909Ser
XM_011545050.1:c.5698A>T	XP_011543352.1:p.Thr1900Ser
XM_011545051.1:c.5962A>T	XP_011543353.1:p.Thr1988Ser
XR_949938.1:n.6282A>T
XR_949941.1:n.6265-9A>T
XM_011545044.2:c.5962A>T	XP_011543346.1:p.Thr1988Ser
XM_011545046.2:c.6052A>T	XP_011543348.2:p.Thr2018Ser
XM_011545050.2:c.5698A>T	XP_011543352.1:p.Thr1900Ser
XM_017017778.1:c.6046A>T	XP_016873267.1:p.Thr2016Ser
XM_017017779.1:c.6043A>T	XP_016873268.1:p.Thr2015Ser
XM_017017780.1:c.6052A>T	XP_016873269.1:p.Thr2018Ser
XM_017017781.1:c.5956A>T	XP_016873270.1:p.Thr1986Ser
XM_017017782.1:c.5938A>T	XP_016873271.1:p.Thr1980Ser
XM_017017783.1:c.5935A>T	XP_016873272.1:p.Thr1979Ser
XM_017017784.1:c.5935A>T	XP_016873273.1:p.Thr1979Ser
XM_017017785.1:c.5815A>T	XP_016873274.1:p.Thr1939Ser
XM_017017786.1:c.6052A>T	XP_016873275.1:p.Thr2018Ser
XM_017017788.1:c.5938A>T	XP_016873277.1:p.Thr1980Ser
XR_001747885.1:n.6050-9A>T
XR_001747886.1:n.5982A>T
XR_001747887.1:n.6036-9A>T
NM_000260.4:c.5962A>T MANE Select	NP_000251.3:p.Thr1988Ser
NM_001127180.2:c.5848A>T	NP_001120652.1:p.Thr1950Ser
NM_001369365.1:c.5815A>T	NP_001356294.1:p.Thr1939Ser