Canonical Allele Identifier: CA6132805
Community Standard Title: NM_177963.4(SYT12):c.1172C>T (p.Pro391Leu)
Gene: SYT12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67048663C>T , CM000673.2:g.67048663C>T GRCh38
NC_000011.9:g.66816134C>T , CM000673.1:g.66816134C>T GRCh37
NC_000011.8:g.66572710C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_177963.4:c.1172C>T MANE Select NP_808878.1:p.Pro391Leu
ENST00000527043.6:c.1172C>T MANE Select ENSP00000435316.1:p.Pro391Leu
NM_001177880.1:c.1172C>T NP_001171351.1:p.Pro391Leu
NM_001177880.2:c.1172C>T NP_001171351.1:p.Pro391Leu
NM_001318773.1:c.827C>T NP_001305702.1:p.Pro276Leu
NM_001318773.2:c.827C>T NP_001305702.1:p.Pro276Leu
NM_001318775.1:c.827C>T NP_001305704.1:p.Pro276Leu
NM_001318775.2:c.827C>T NP_001305704.1:p.Pro276Leu
NM_177963.3:c.1172C>T NP_808878.1:p.Pro391Leu
ENST00000393946.6:c.1172C>T ENSP00000377520.2:p.Pro391Leu
ENST00000525457.5:c.1172C>T ENSP00000431400.1:p.Pro391Leu
ENST00000527043.5:c.1172C>T ENSP00000435316.1:p.Pro391Leu
XM_006718737.2:c.1226C>T XP_006718800.1:p.Pro409Leu
XM_006718737.4:c.1226C>T XP_006718800.1:p.Pro409Leu
XM_011545346.1:c.1277C>T XP_011543648.1:p.Pro426Leu
XM_011545346.3:c.1277C>T XP_011543648.1:p.Pro426Leu
XM_011545347.1:c.1172C>T XP_011543649.1:p.Pro391Leu
XM_011545348.1:c.827C>T XP_011543650.1:p.Pro276Leu
XM_017018547.1:c.827C>T XP_016874036.1:p.Pro276Leu
XM_017018548.1:c.827C>T XP_016874037.1:p.Pro276Leu
XM_024448766.1:c.1370C>T XP_024304534.1:p.Pro457Leu