Canonical Allele Identifier: CA385929682
Community Standard Title: NM_005639.3(SYT1):c.536A>G (p.Asp179Gly)
Gene: SYT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.79296130A>G , CM000674.2:g.79296130A>G GRCh38
NC_000012.11:g.79689910A>G , CM000674.1:g.79689910A>G GRCh37
NC_000012.10:g.78214041A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005639.3:c.536A>G MANE Select NP_005630.1:p.Asp179Gly
ENST00000261205.9:c.536A>G MANE Select ENSP00000261205.4:p.Asp179Gly
NM_001135805.1:c.536A>G NP_001129277.1:p.Asp179Gly
NM_001135805.2:c.536A>G NP_001129277.1:p.Asp179Gly
NM_001135806.1:c.536A>G NP_001129278.1:p.Asp179Gly
NM_001135806.2:c.536A>G NP_001129278.1:p.Asp179Gly
NM_001291901.1:c.527A>G NP_001278830.1:p.Asp176Gly
NM_001291901.2:c.527A>G NP_001278830.1:p.Asp176Gly
NM_005639.2:c.536A>G NP_005630.1:p.Asp179Gly
ENST00000261205.8:c.536A>G ENSP00000261205.4:p.Asp179Gly
ENST00000393240.7:c.536A>G ENSP00000376932.3:p.Asp179Gly
ENST00000446242.3:c.536A>G ENSP00000401559.2:p.Asp179Gly
ENST00000457153.6:c.527A>G ENSP00000391056.2:p.Asp176Gly
ENST00000549559.2:n.241A>G
ENST00000552744.5:c.536A>G ENSP00000447575.1:p.Asp179Gly
ENST00000704696.1:c.536A>G ENSP00000515993.1:p.Asp179Gly
ENST00000704697.1:c.536A>G ENSP00000515994.1:p.Asp179Gly
ENST00000704698.1:c.-23-147943A>G ENSP00000515995.1:n.-23-147943A>G
ENST00000704699.1:c.527A>G ENSP00000515996.1:p.Asp176Gly
ENST00000704700.1:c.536A>G ENSP00000515997.1:p.Asp179Gly
ENST00000704702.1:c.536A>G ENSP00000515999.1:p.Asp179Gly
ENST00000704703.1:c.371A>G ENSP00000516000.1:p.Asp124Gly
ENST00000704704.1:c.536A>G ENSP00000516001.1:p.Asp179Gly
ENST00000704705.1:c.536A>G ENSP00000516002.1:p.Asp179Gly
ENST00000704706.1:c.536A>G ENSP00000516003.1:p.Asp179Gly
ENST00000704707.1:c.*523A>G ENSP00000516004.1:n.*523A>G
ENST00000704708.1:c.536A>G ENSP00000516005.1:p.Asp179Gly
ENST00000704709.1:c.527A>G ENSP00000516006.1:p.Asp176Gly
ENST00000704710.1:c.536A>G ENSP00000516007.1:p.Asp179Gly
ENST00000704711.1:c.536A>G ENSP00000516008.1:p.Asp179Gly
ENST00000704714.1:c.536A>G ENSP00000516009.1:p.Asp179Gly
ENST00000704715.1:c.536A>G ENSP00000516010.1:p.Asp179Gly
ENST00000704716.1:c.527A>G ENSP00000516011.1:p.Asp176Gly
ENST00000704718.1:c.536A>G ENSP00000516013.1:p.Asp179Gly
XM_005269113.2:c.527A>G XP_005269170.1:p.Asp176Gly
XM_005269113.3:c.527A>G XP_005269170.1:p.Asp176Gly
XM_006719576.1:c.527A>G XP_006719639.1:p.Asp176Gly
XM_011538710.1:c.536A>G XP_011537012.1:p.Asp179Gly
XM_011538710.2:c.536A>G XP_011537012.1:p.Asp179Gly