Canonical Allele Identifier: CA174327

Gene: SEZ6L

Linked Data

• ClinVar Variation Id: 161553
• ClinVar RCV Id: RCV000149088
• dbSNP Id: rs193920909
• MyVariant Identifiers: chr22:g.26706631G>A (hg19) ; chr22:g.26310665G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26310665G>A , CM000684.2:g.26310665G>A	GRCh38
NC_000022.10:g.26706631G>A , CM000684.1:g.26706631G>A	GRCh37
NC_000022.9:g.25036631G>A	NCBI36
NG_054877.1:g.146192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248933.11:c.1515-5G>A MANE Select	ENSP00000248933.6:n.1515-5G>A
ENST00000248933.10:c.1515-5G>A	ENSP00000248933.6:n.1515-5G>A
ENST00000343706.8:c.1515-5G>A	ENSP00000342661.4:n.1515-5G>A
ENST00000360929.7:c.1515-5G>A	ENSP00000354185.3:n.1515-5G>A
ENST00000402979.1:c.834-5G>A	ENSP00000384733.1:n.834-5G>A
ENST00000403121.5:c.834-5G>A	ENSP00000384838.1:n.834-5G>A
ENST00000404234.7:c.1515-5G>A	ENSP00000384772.3:n.1515-5G>A
ENST00000529632.6:c.1515-5G>A	ENSP00000437037.3:n.1515-5G>A
ENST00000629590.2:c.1515-5G>A	ENSP00000485720.1:n.1515-5G>A
NM_001184773.1:c.1515-5G>A	NP_001171702.1:n.1515-5G>A
NM_001184774.1:c.1515-5G>A	NP_001171703.1:n.1515-5G>A
NM_001184775.1:c.1515-5G>A	NP_001171704.1:n.1515-5G>A
NM_001184776.1:c.1515-5G>A	NP_001171705.1:n.1515-5G>A
NM_001184777.1:c.1515-5G>A	NP_001171706.1:n.1515-5G>A
NM_021115.4:c.1515-5G>A	NP_066938.2:n.1515-5G>A
XM_005261439.2:c.1515-5G>A	XP_005261496.1:n.1515-5G>A
XM_005261440.2:c.1515-5G>A	XP_005261497.1:n.1515-5G>A
XM_006724195.2:c.1515-5G>A	XP_006724258.1:n.1515-5G>A
XM_011530037.1:c.1515-5G>A	XP_011528339.1:n.1515-5G>A
XM_011530038.1:c.1515-5G>A	XP_011528340.1:n.1515-5G>A
XM_011530039.1:c.1515-5G>A	XP_011528341.1:n.1515-5G>A
XM_005261439.3:c.1515-5G>A	XP_005261496.1:n.1515-5G>A
XM_005261440.3:c.1515-5G>A	XP_005261497.1:n.1515-5G>A
XM_006724195.3:c.1515-5G>A	XP_006724258.1:n.1515-5G>A
XM_011530037.2:c.1515-5G>A	XP_011528339.1:n.1515-5G>A
XM_011530038.2:c.1515-5G>A	XP_011528340.1:n.1515-5G>A
XM_011530039.2:c.1515-5G>A	XP_011528341.1:n.1515-5G>A
XM_017028699.1:c.1515-5G>A	XP_016884188.1:n.1515-5G>A
XM_017028700.1:c.1515-5G>A	XP_016884189.1:n.1515-5G>A
NM_021115.5:c.1515-5G>A MANE Select	NP_066938.2:n.1515-5G>A
NM_001184773.2:c.1515-5G>A	NP_001171702.1:n.1515-5G>A
NM_001184774.2:c.1515-5G>A	NP_001171703.1:n.1515-5G>A
NM_001184776.2:c.1515-5G>A	NP_001171705.1:n.1515-5G>A
NM_001184777.2:c.1515-5G>A	NP_001171706.1:n.1515-5G>A
NM_001184775.2:c.1515-5G>A	NP_001171704.1:n.1515-5G>A