Canonical Allele Identifier: CA381935858

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922274G>C (hg19) ; chr11:g.77211229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211229G>C , CM000673.2:g.77211229G>C	GRCh38
NC_000011.9:g.76922274G>C , CM000673.1:g.76922274G>C	GRCh37
NC_000011.8:g.76599922G>C	NCBI36
NG_009086.1:g.87965G>C
NG_009086.2:g.87984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6129G>C MANE Select	ENSP00000386331.3:p.Arg2043Ser
ENST00000670577.1:c.3930G>C
ENST00000409619.6:c.5982G>C	ENSP00000386635.2:p.Arg1994Ser
ENST00000409709.7:c.6129G>C	ENSP00000386331.3:p.Arg2043Ser
ENST00000458169.2:c.3555G>C	ENSP00000417017.2:p.Arg1185Ser
ENST00000458637.6:c.6015G>C	ENSP00000392185.2:p.Arg2005Ser
ENST00000481328.7:n.3665G>C
ENST00000526863.2:n.25+318G>C
ENST00000605744.1:n.1596G>C
NM_000260.3:c.6129G>C	NP_000251.3:p.Arg2043Ser
NM_001127180.1:c.6015G>C	NP_001120652.1:p.Arg2005Ser
XM_005274012.2:c.6012G>C	XP_005274069.1:p.Arg2004Ser
XM_006718558.2:c.6120G>C	XP_006718621.1:p.Arg2040Ser
XM_006718559.2:c.6015G>C	XP_006718622.1:p.Arg2005Ser
XM_006718560.2:c.6012G>C	XP_006718623.1:p.Arg2004Ser
XM_006718561.2:c.6015G>C	XP_006718624.1:p.Arg2005Ser
XM_011545044.1:c.6129G>C	XP_011543346.1:p.Arg2043Ser
XM_011545045.1:c.6123G>C	XP_011543347.1:p.Arg2041Ser
XM_011545046.1:c.6096G>C	XP_011543348.1:p.Arg2032Ser
XM_011545047.1:c.6033G>C	XP_011543349.1:p.Arg2011Ser
XM_011545048.1:c.5904G>C	XP_011543350.1:p.Arg1968Ser
XM_011545049.1:c.5892G>C	XP_011543351.1:p.Arg1964Ser
XM_011545050.1:c.5865G>C	XP_011543352.1:p.Arg1955Ser
XM_011545051.1:c.6129G>C	XP_011543353.1:p.Arg2043Ser
XR_949938.1:n.6449G>C
XR_949941.1:n.6423G>C
XM_011545044.2:c.6129G>C	XP_011543346.1:p.Arg2043Ser
XM_011545046.2:c.6219G>C	XP_011543348.2:p.Arg2073Ser
XM_011545050.2:c.5865G>C	XP_011543352.1:p.Arg1955Ser
XM_017017778.1:c.6213G>C	XP_016873267.1:p.Arg2071Ser
XM_017017779.1:c.6210G>C	XP_016873268.1:p.Arg2070Ser
XM_017017780.1:c.6219G>C	XP_016873269.1:p.Arg2073Ser
XM_017017781.1:c.6123G>C	XP_016873270.1:p.Arg2041Ser
XM_017017782.1:c.6105G>C	XP_016873271.1:p.Arg2035Ser
XM_017017783.1:c.6102G>C	XP_016873272.1:p.Arg2034Ser
XM_017017784.1:c.6102G>C	XP_016873273.1:p.Arg2034Ser
XM_017017785.1:c.5982G>C	XP_016873274.1:p.Arg1994Ser
XM_017017786.1:c.6219G>C	XP_016873275.1:p.Arg2073Ser
XM_017017788.1:c.6105G>C	XP_016873277.1:p.Arg2035Ser
XR_001747885.1:n.6208G>C
XR_001747886.1:n.6149G>C
XR_001747887.1:n.6194G>C
NM_000260.4:c.6129G>C MANE Select	NP_000251.3:p.Arg2043Ser
NM_001127180.2:c.6015G>C	NP_001120652.1:p.Arg2005Ser
NM_001369365.1:c.5982G>C	NP_001356294.1:p.Arg1994Ser