Canonical Allele Identifier: CA381501182

Gene: SYT12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67048588T>C , CM000673.2:g.67048588T>C	GRCh38
NC_000011.9:g.66816059T>C , CM000673.1:g.66816059T>C	GRCh37
NC_000011.8:g.66572635T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177963.4:c.1097T>C MANE Select	NP_808878.1:p.Leu366Pro
ENST00000527043.6:c.1097T>C MANE Select	ENSP00000435316.1:p.Leu366Pro
NM_001177880.1:c.1097T>C	NP_001171351.1:p.Leu366Pro
NM_001177880.2:c.1097T>C	NP_001171351.1:p.Leu366Pro
NM_001318773.1:c.752T>C	NP_001305702.1:p.Leu251Pro
NM_001318773.2:c.752T>C	NP_001305702.1:p.Leu251Pro
NM_001318775.1:c.752T>C	NP_001305704.1:p.Leu251Pro
NM_001318775.2:c.752T>C	NP_001305704.1:p.Leu251Pro
NM_177963.3:c.1097T>C	NP_808878.1:p.Leu366Pro
ENST00000393946.6:c.1097T>C	ENSP00000377520.2:p.Leu366Pro
ENST00000525457.5:c.1097T>C	ENSP00000431400.1:p.Leu366Pro
ENST00000527043.5:c.1097T>C	ENSP00000435316.1:p.Leu366Pro
XM_006718737.2:c.1151T>C	XP_006718800.1:p.Leu384Pro
XM_006718737.4:c.1151T>C	XP_006718800.1:p.Leu384Pro
XM_011545346.1:c.1202T>C	XP_011543648.1:p.Leu401Pro
XM_011545346.3:c.1202T>C	XP_011543648.1:p.Leu401Pro
XM_011545347.1:c.1097T>C	XP_011543649.1:p.Leu366Pro
XM_011545348.1:c.752T>C	XP_011543650.1:p.Leu251Pro
XM_017018547.1:c.752T>C	XP_016874036.1:p.Leu251Pro
XM_017018548.1:c.752T>C	XP_016874037.1:p.Leu251Pro
XM_024448766.1:c.1295T>C	XP_024304534.1:p.Leu432Pro