Canonical Allele Identifier: CA213248

Gene: OCLN

Linked Data

• ClinVar Variation Id: 159460
• ClinVar RCV Id: RCV000146971 ; RCV000425727 ; RCV002055909 ; RCV003905271
• dbSNP Id: rs28562785
• ExAC: 5:68805369 C / T
• gnomAD v2: 5-68805369-C-T
• gnomAD v3: 5-69509542-C-T
• gnomAD v4: 5-69509542-C-T
• MyVariant Identifiers: chr5:g.68805369C>T (hg19) ; chr5:g.69509542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69509542C>T , CM000667.2:g.69509542C>T	GRCh38
NC_000005.9:g.68805369C>T , CM000667.1:g.68805369C>T	GRCh37
NC_000005.8:g.68841125C>T	NCBI36
NG_028291.1:g.22251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.452C>T MANE Select	ENSP00000379719.2:p.Ala151Val
ENST00000680027.1:c.452C>T	ENSP00000506162.1:p.Ala151Val
ENST00000680098.1:c.452C>T	ENSP00000506561.1:p.Ala151Val
ENST00000680496.1:c.452C>T	ENSP00000504966.1:p.Ala151Val
ENST00000680784.1:c.452C>T	ENSP00000506305.1:p.Ala151Val
ENST00000681041.1:c.452C>T	ENSP00000505426.1:p.Ala151Val
ENST00000681586.1:c.452C>T	ENSP00000505541.1:p.Ala151Val
ENST00000681588.1:c.298+154C>T	ENSP00000506017.1:n.298+154C>T
ENST00000681895.1:c.452C>T	ENSP00000505831.1:p.Ala151Val
ENST00000355237.6:c.452C>T	ENSP00000347379.2:p.Ala151Val
ENST00000396442.6:c.452C>T	ENSP00000379719.2:p.Ala151Val
ENST00000538151.2:c.-24-4406C>T	ENSP00000445940.1:n.-24-4406C>T
NM_001205254.1:c.452C>T	NP_001192183.1:p.Ala151Val
NM_001205255.1:c.-24-4406C>T	NP_001192184.1:n.-24-4406C>T
NM_002538.3:c.452C>T	NP_002529.1:p.Ala151Val
XM_017008913.2:c.452C>T	XP_016864402.1:p.Ala151Val
XM_017008914.2:c.452C>T	XP_016864403.1:p.Ala151Val
NM_001205254.2:c.452C>T MANE Select	NP_001192183.1:p.Ala151Val
NM_002538.4:c.452C>T	NP_002529.1:p.Ala151Val