Canonical Allele Identifier: CA360066874

Gene: OCLN

Linked Data

• gnomAD v4: 5-69534815-C-G
• MyVariant Identifiers: chr5:g.68830642C>G (hg19) ; chr5:g.69534815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534815C>G , CM000667.2:g.69534815C>G	GRCh38
NC_000005.9:g.68830642C>G , CM000667.1:g.68830642C>G	GRCh37
NC_000005.8:g.68866398C>G	NCBI36
NG_028291.1:g.47524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.1013C>G MANE Select	ENSP00000379719.2:p.Pro338Arg
ENST00000680027.1:c.1013C>G	ENSP00000506162.1:p.Pro338Arg
ENST00000680496.1:c.851C>G	ENSP00000504966.1:p.Pro284Arg
ENST00000680784.1:c.851C>G	ENSP00000506305.1:p.Pro284Arg
ENST00000681041.1:c.1013C>G	ENSP00000505426.1:p.Pro338Arg
ENST00000681586.1:c.1013C>G	ENSP00000505541.1:p.Pro338Arg
ENST00000681588.1:c.*189C>G	ENSP00000506017.1:n.*189C>G
ENST00000681895.1:c.1013C>G	ENSP00000505831.1:p.Pro338Arg
ENST00000355237.6:c.1013C>G	ENSP00000347379.2:p.Pro338Arg
ENST00000396442.6:c.1013C>G	ENSP00000379719.2:p.Pro338Arg
ENST00000538151.2:c.260C>G	ENSP00000445940.1:p.Pro87Arg
NM_001205254.1:c.1013C>G	NP_001192183.1:p.Pro338Arg
NM_001205255.1:c.260C>G	NP_001192184.1:p.Pro87Arg
NM_002538.3:c.1013C>G	NP_002529.1:p.Pro338Arg
XM_017008913.2:c.851C>G	XP_016864402.1:p.Pro284Arg
XM_017008914.2:c.851C>G	XP_016864403.1:p.Pro284Arg
NM_001205254.2:c.1013C>G MANE Select	NP_001192183.1:p.Pro338Arg
NM_002538.4:c.1013C>G	NP_002529.1:p.Pro338Arg