Canonical Allele Identifier: CA360066457

Gene: OCLN

Linked Data

• gnomAD v4: 5-69534718-C-T
• MyVariant Identifiers: chr5:g.68830545C>T (hg19) ; chr5:g.69534718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534718C>T , CM000667.2:g.69534718C>T	GRCh38
NC_000005.9:g.68830545C>T , CM000667.1:g.68830545C>T	GRCh37
NC_000005.8:g.68866301C>T	NCBI36
NG_028291.1:g.47427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.916C>T MANE Select	ENSP00000379719.2:p.Gln306Ter
ENST00000680027.1:c.916C>T	ENSP00000506162.1:p.Gln306Ter
ENST00000680496.1:c.754C>T	ENSP00000504966.1:p.Gln252Ter
ENST00000680784.1:c.754C>T	ENSP00000506305.1:p.Gln252Ter
ENST00000681041.1:c.916C>T	ENSP00000505426.1:p.Gln306Ter
ENST00000681586.1:c.916C>T	ENSP00000505541.1:p.Gln306Ter
ENST00000681588.1:c.*92C>T	ENSP00000506017.1:n.*92C>T
ENST00000681895.1:c.916C>T	ENSP00000505831.1:p.Gln306Ter
ENST00000355237.6:c.916C>T	ENSP00000347379.2:p.Gln306Ter
ENST00000396442.6:c.916C>T	ENSP00000379719.2:p.Gln306Ter
ENST00000538151.2:c.163C>T	ENSP00000445940.1:p.Gln55Ter
NM_001205254.1:c.916C>T	NP_001192183.1:p.Gln306Ter
NM_001205255.1:c.163C>T	NP_001192184.1:p.Gln55Ter
NM_002538.3:c.916C>T	NP_002529.1:p.Gln306Ter
XM_017008913.2:c.754C>T	XP_016864402.1:p.Gln252Ter
XM_017008914.2:c.754C>T	XP_016864403.1:p.Gln252Ter
NM_001205254.2:c.916C>T MANE Select	NP_001192183.1:p.Gln306Ter
NM_002538.4:c.916C>T	NP_002529.1:p.Gln306Ter