Canonical Allele Identifier: CA8471233

Gene: SEZ6 PIPOX

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28981937C>T , CM000679.2:g.28981937C>T	GRCh38
NC_000017.10:g.27308955C>T , CM000679.1:g.27308955C>T	GRCh37
NC_000017.9:g.24333081C>T	NCBI36
NG_051223.1:g.29504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317338.17:c.158G>A (SEZ6) MANE Select	ENSP00000312942.11:p.Arg53Gln
ENST00000317338.16:c.158G>A (SEZ6)	ENSP00000312942.11:p.Arg53Gln
ENST00000335960.10:c.158G>A (SEZ6)	ENSP00000337407.7:p.Arg53Gln
ENST00000360295.13:c.158G>A (SEZ6)	ENSP00000353440.9:p.Arg53Gln
ENST00000442608.7:c.158G>A (SEZ6)	ENSP00000403784.3:p.Arg53Gln
ENST00000577182.5:n.83+28529C>T (PIPOX)
ENST00000578748.6:n.641+28529C>T (PIPOX)
ENST00000580241.5:n.227+28529C>T (PIPOX)
ENST00000580383.5:n.75+31243C>T (PIPOX)
ENST00000583215.5:n.97+28529C>T (PIPOX)
ENST00000585644.1:c.-218G>A (SEZ6)	ENSP00000466107.1:n.-218G>A
NM_001098635.1:c.158G>A (SEZ6)	NP_001092105.1:p.Arg53Gln
NM_001290202.1:c.-218G>A (SEZ6)	NP_001277131.1:n.-218G>A
NM_178860.4:c.158G>A (SEZ6)	NP_849191.3:p.Arg53Gln
XM_011524315.1:c.158G>A (SEZ6)	XP_011522617.1:p.Arg53Gln
XM_011524316.1:c.158G>A (SEZ6)	XP_011522618.1:p.Arg53Gln
XM_011524317.1:c.158G>A (SEZ6)	XP_011522619.1:p.Arg53Gln
XM_011524315.2:c.158G>A (SEZ6)	XP_011522617.1:p.Arg53Gln
XM_011524317.3:c.158G>A (SEZ6)	XP_011522619.1:p.Arg53Gln
XR_001752822.1:n.750-10885C>T
NM_001098635.2:c.158G>A (SEZ6)	NP_001092105.1:p.Arg53Gln
NM_178860.5:c.158G>A (SEZ6) MANE Select	NP_849191.3:p.Arg53Gln
NM_001290202.2:c.-218G>A (SEZ6)	NP_001277131.1:n.-218G>A