Canonical Allele Identifier: CA6036148
Community Standard Title: NM_001365809.2(SYT7):c.193C>T (p.Arg65Cys)
Gene: SYT7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61551406G>A , CM000673.2:g.61551406G>A GRCh38
NC_000011.9:g.61318878G>A , CM000673.1:g.61318878G>A GRCh37
NC_000011.8:g.61075454G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001365809.2:c.193C>T MANE Select NP_001352738.1:p.Arg65Cys
ENST00000539008.6:c.193C>T MANE Select ENSP00000439694.1:p.Arg65Cys
NM_001252065.1:c.193C>T NP_001238994.1:p.Arg65Cys
NM_001252065.2:c.193C>T NP_001238994.1:p.Arg65Cys
NM_001300773.1:c.193C>T NP_001287702.1:p.Arg65Cys
NM_001300773.2:c.193C>T NP_001287702.1:p.Arg65Cys
NM_001365809.1:c.193C>T NP_001352738.1:p.Arg65Cys
NM_001370211.1:c.193C>T NP_001357140.1:p.Arg65Cys
NM_004200.3:c.193C>T NP_004191.2:p.Arg65Cys
NM_004200.4:c.193C>T NP_004191.2:p.Arg65Cys
ENST00000263846.8:c.193C>T ENSP00000263846.4:p.Arg65Cys
ENST00000535826.5:c.193C>T ENSP00000437720.1:p.Arg65Cys
ENST00000539008.5:c.193C>T ENSP00000439694.1:p.Arg65Cys
ENST00000539246.5:c.193C>T ENSP00000438171.1:p.Arg65Cys
ENST00000539468.5:c.193C>T ENSP00000441184.1:p.Arg65Cys
ENST00000540677.5:c.193C>T ENSP00000444201.1:p.Arg65Cys
ENST00000542670.5:c.193C>T ENSP00000444019.1:p.Arg65Cys
ENST00000542836.5:c.193C>T ENSP00000444568.1:p.Arg65Cys
ENST00000545053.1:c.193C>T ENSP00000443576.1:p.Arg65Cys
XM_005274383.3:c.193C>T XP_005274440.1:p.Arg65Cys
XM_005274384.2:c.193C>T XP_005274441.1:p.Arg65Cys
XM_005274385.3:c.193C>T XP_005274442.1:p.Arg65Cys
XM_005274385.4:c.193C>T XP_005274442.1:p.Arg65Cys
XM_011545335.1:c.211C>T XP_011543637.1:p.Arg71Cys
XM_011545335.2:c.211C>T XP_011543637.1:p.Arg71Cys
XM_011545336.1:c.211C>T XP_011543638.1:p.Arg71Cys
XM_011545336.2:c.211C>T XP_011543638.1:p.Arg71Cys
XM_011545337.1:c.211C>T XP_011543639.1:p.Arg71Cys
XM_011545337.2:c.211C>T XP_011543639.1:p.Arg71Cys
XM_011545338.1:c.211C>T XP_011543640.1:p.Arg71Cys
XM_011545338.2:c.211C>T XP_011543640.1:p.Arg71Cys
XM_011545339.1:c.211C>T XP_011543641.1:p.Arg71Cys
XM_011545339.2:c.211C>T XP_011543641.1:p.Arg71Cys
XM_011545340.1:c.211C>T XP_011543642.1:p.Arg71Cys
XM_011545340.2:c.211C>T XP_011543642.1:p.Arg71Cys
XM_011545341.1:c.211C>T XP_011543643.1:p.Arg71Cys
XM_011545341.2:c.211C>T XP_011543643.1:p.Arg71Cys
XM_011545342.1:c.211C>T XP_011543644.1:p.Arg71Cys
XM_011545342.2:c.211C>T XP_011543644.1:p.Arg71Cys
XM_011545343.1:c.211C>T XP_011543645.1:p.Arg71Cys
XM_011545343.2:c.211C>T XP_011543645.1:p.Arg71Cys