Canonical Allele Identifier: CA360066945

Gene: OCLN

Linked Data

• dbSNP Id: rs1275859439
• gnomAD v4: 5-69534839-C-A
• MyVariant Identifiers: chr5:g.68830666C>A (hg19) ; chr5:g.69534839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534839C>A , CM000667.2:g.69534839C>A	GRCh38
NC_000005.9:g.68830666C>A , CM000667.1:g.68830666C>A	GRCh37
NC_000005.8:g.68866422C>A	NCBI36
NG_028291.1:g.47548C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.1037C>A MANE Select	ENSP00000379719.2:p.Pro346Gln
ENST00000680027.1:c.1037C>A	ENSP00000506162.1:p.Pro346Gln
ENST00000680496.1:c.875C>A	ENSP00000504966.1:p.Pro292Gln
ENST00000680784.1:c.875C>A	ENSP00000506305.1:p.Pro292Gln
ENST00000681041.1:c.1037C>A	ENSP00000505426.1:p.Pro346Gln
ENST00000681586.1:c.1037C>A	ENSP00000505541.1:p.Pro346Gln
ENST00000681588.1:c.*213C>A	ENSP00000506017.1:n.*213C>A
ENST00000681895.1:c.1037C>A	ENSP00000505831.1:p.Pro346His
ENST00000355237.6:c.1037C>A	ENSP00000347379.2:p.Pro346Gln
ENST00000396442.6:c.1037C>A	ENSP00000379719.2:p.Pro346Gln
ENST00000538151.2:c.284C>A	ENSP00000445940.1:p.Pro95Gln
NM_001205254.1:c.1037C>A	NP_001192183.1:p.Pro346Gln
NM_001205255.1:c.284C>A	NP_001192184.1:p.Pro95Gln
NM_002538.3:c.1037C>A	NP_002529.1:p.Pro346Gln
XM_017008913.2:c.875C>A	XP_016864402.1:p.Pro292Gln
XM_017008914.2:c.875C>A	XP_016864403.1:p.Pro292Gln
NM_001205254.2:c.1037C>A MANE Select	NP_001192183.1:p.Pro346Gln
NM_002538.4:c.1037C>A	NP_002529.1:p.Pro346Gln