Canonical Allele Identifier: CA381950952

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76910808G>T (hg19) ; chr11:g.77199763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199763G>T , CM000673.2:g.77199763G>T	GRCh38
NC_000011.9:g.76910808G>T , CM000673.1:g.76910808G>T	GRCh37
NC_000011.8:g.76588456G>T	NCBI36
NG_009086.1:g.76499G>T
NG_009086.2:g.76518G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4797G>T MANE Select	ENSP00000386331.3:p.Glu1599Asp
ENST00000670577.1:c.2638G>T
ENST00000409619.6:c.4650G>T	ENSP00000386635.2:p.Glu1550Asp
ENST00000409709.7:c.4797G>T	ENSP00000386331.3:p.Glu1599Asp
ENST00000458169.2:c.2226G>T	ENSP00000417017.2:p.Glu742Asp
ENST00000458637.6:c.4683G>T	ENSP00000392185.2:p.Glu1561Asp
ENST00000481328.7:n.2336G>T
NM_000260.3:c.4797G>T	NP_000251.3:p.Glu1599Asp
NM_001127180.1:c.4683G>T	NP_001120652.1:p.Glu1561Asp
XM_005274012.2:c.4683G>T	XP_005274069.1:p.Glu1561Asp
XM_006718558.2:c.4791G>T	XP_006718621.1:p.Glu1597Asp
XM_006718559.2:c.4683G>T	XP_006718622.1:p.Glu1561Asp
XM_006718560.2:c.4683G>T	XP_006718623.1:p.Glu1561Asp
XM_006718561.2:c.4683G>T	XP_006718624.1:p.Glu1561Asp
XM_011545044.1:c.4797G>T	XP_011543346.1:p.Glu1599Asp
XM_011545045.1:c.4791G>T	XP_011543347.1:p.Glu1597Asp
XM_011545046.1:c.4764G>T	XP_011543348.1:p.Glu1588Asp
XM_011545047.1:c.4701G>T	XP_011543349.1:p.Glu1567Asp
XM_011545048.1:c.4572G>T	XP_011543350.1:p.Glu1524Asp
XM_011545049.1:c.4560G>T	XP_011543351.1:p.Glu1520Asp
XM_011545050.1:c.4533G>T	XP_011543352.1:p.Glu1511Asp
XM_011545051.1:c.4797G>T	XP_011543353.1:p.Glu1599Asp
XM_011545052.1:c.4797G>T	XP_011543354.1:p.Glu1599Asp
XR_949938.1:n.5117G>T
XR_949941.1:n.5117G>T
XR_949942.1:n.5119G>T
XM_011545044.2:c.4797G>T	XP_011543346.1:p.Glu1599Asp
XM_011545046.2:c.4887G>T	XP_011543348.2:p.Glu1629Asp
XM_011545050.2:c.4533G>T	XP_011543352.1:p.Glu1511Asp
XM_017017778.1:c.4881G>T	XP_016873267.1:p.Glu1627Asp
XM_017017779.1:c.4881G>T	XP_016873268.1:p.Glu1627Asp
XM_017017780.1:c.4887G>T	XP_016873269.1:p.Glu1629Asp
XM_017017781.1:c.4791G>T	XP_016873270.1:p.Glu1597Asp
XM_017017782.1:c.4773G>T	XP_016873271.1:p.Glu1591Asp
XM_017017783.1:c.4773G>T	XP_016873272.1:p.Glu1591Asp
XM_017017784.1:c.4773G>T	XP_016873273.1:p.Glu1591Asp
XM_017017785.1:c.4650G>T	XP_016873274.1:p.Glu1550Asp
XM_017017786.1:c.4887G>T	XP_016873275.1:p.Glu1629Asp
XM_017017788.1:c.4773G>T	XP_016873277.1:p.Glu1591Asp
XR_001747885.1:n.4902G>T
XR_001747886.1:n.4902G>T
XR_001747887.1:n.4902G>T
XR_001747888.1:n.4902G>T
NM_000260.4:c.4797G>T MANE Select	NP_000251.3:p.Glu1599Asp
NM_001127180.2:c.4683G>T	NP_001120652.1:p.Glu1561Asp
NM_001369365.1:c.4650G>T	NP_001356294.1:p.Glu1550Asp