Canonical Allele Identifier: CA381935809

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76922264T>C (hg19) ; chr11:g.77211219T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211219T>C , CM000673.2:g.77211219T>C	GRCh38
NC_000011.9:g.76922264T>C , CM000673.1:g.76922264T>C	GRCh37
NC_000011.8:g.76599912T>C	NCBI36
NG_009086.1:g.87955T>C
NG_009086.2:g.87974T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409709.9:c.6119T>C MANE Select	ENSP00000386331.3:p.Leu2040Pro
ENST00000670577.1:c.3920T>C
ENST00000409619.6:c.5972T>C	ENSP00000386635.2:p.Leu1991Pro
ENST00000409709.7:c.6119T>C	ENSP00000386331.3:p.Leu2040Pro
ENST00000458169.2:c.3545T>C	ENSP00000417017.2:p.Leu1182Pro
ENST00000458637.6:c.6005T>C	ENSP00000392185.2:p.Leu2002Pro
ENST00000481328.7:n.3655T>C
ENST00000526863.2:n.25+308T>C
ENST00000605744.1:n.1586T>C
NM_000260.3:c.6119T>C	NP_000251.3:p.Leu2040Pro
NM_001127180.1:c.6005T>C	NP_001120652.1:p.Leu2002Pro
XM_005274012.2:c.6002T>C	XP_005274069.1:p.Leu2001Pro
XM_006718558.2:c.6110T>C	XP_006718621.1:p.Leu2037Pro
XM_006718559.2:c.6005T>C	XP_006718622.1:p.Leu2002Pro
XM_006718560.2:c.6002T>C	XP_006718623.1:p.Leu2001Pro
XM_006718561.2:c.6005T>C	XP_006718624.1:p.Leu2002Pro
XM_011545044.1:c.6119T>C	XP_011543346.1:p.Leu2040Pro
XM_011545045.1:c.6113T>C	XP_011543347.1:p.Leu2038Pro
XM_011545046.1:c.6086T>C	XP_011543348.1:p.Leu2029Pro
XM_011545047.1:c.6023T>C	XP_011543349.1:p.Leu2008Pro
XM_011545048.1:c.5894T>C	XP_011543350.1:p.Leu1965Pro
XM_011545049.1:c.5882T>C	XP_011543351.1:p.Leu1961Pro
XM_011545050.1:c.5855T>C	XP_011543352.1:p.Leu1952Pro
XM_011545051.1:c.6119T>C	XP_011543353.1:p.Leu2040Pro
XR_949938.1:n.6439T>C
XR_949941.1:n.6413T>C
XM_011545044.2:c.6119T>C	XP_011543346.1:p.Leu2040Pro
XM_011545046.2:c.6209T>C	XP_011543348.2:p.Leu2070Pro
XM_011545050.2:c.5855T>C	XP_011543352.1:p.Leu1952Pro
XM_017017778.1:c.6203T>C	XP_016873267.1:p.Leu2068Pro
XM_017017779.1:c.6200T>C	XP_016873268.1:p.Leu2067Pro
XM_017017780.1:c.6209T>C	XP_016873269.1:p.Leu2070Pro
XM_017017781.1:c.6113T>C	XP_016873270.1:p.Leu2038Pro
XM_017017782.1:c.6095T>C	XP_016873271.1:p.Leu2032Pro
XM_017017783.1:c.6092T>C	XP_016873272.1:p.Leu2031Pro
XM_017017784.1:c.6092T>C	XP_016873273.1:p.Leu2031Pro
XM_017017785.1:c.5972T>C	XP_016873274.1:p.Leu1991Pro
XM_017017786.1:c.6209T>C	XP_016873275.1:p.Leu2070Pro
XM_017017788.1:c.6095T>C	XP_016873277.1:p.Leu2032Pro
XR_001747885.1:n.6198T>C
XR_001747886.1:n.6139T>C
XR_001747887.1:n.6184T>C
NM_000260.4:c.6119T>C MANE Select	NP_000251.3:p.Leu2040Pro
NM_001127180.2:c.6005T>C	NP_001120652.1:p.Leu2002Pro
NM_001369365.1:c.5972T>C	NP_001356294.1:p.Leu1991Pro