Canonical Allele Identifier: CA360066620

Gene: OCLN

Linked Data

• gnomAD v4: 5-69534757-G-C
• MyVariant Identifiers: chr5:g.68830584G>C (hg19) ; chr5:g.69534757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534757G>C , CM000667.2:g.69534757G>C	GRCh38
NC_000005.9:g.68830584G>C , CM000667.1:g.68830584G>C	GRCh37
NC_000005.8:g.68866340G>C	NCBI36
NG_028291.1:g.47466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.955G>C MANE Select	ENSP00000379719.2:p.Val319Leu
ENST00000680027.1:c.955G>C	ENSP00000506162.1:p.Val319Leu
ENST00000680496.1:c.793G>C	ENSP00000504966.1:p.Val265Leu
ENST00000680784.1:c.793G>C	ENSP00000506305.1:p.Val265Leu
ENST00000681041.1:c.955G>C	ENSP00000505426.1:p.Val319Leu
ENST00000681586.1:c.955G>C	ENSP00000505541.1:p.Val319Leu
ENST00000681588.1:c.*131G>C	ENSP00000506017.1:n.*131G>C
ENST00000681895.1:c.955G>C	ENSP00000505831.1:p.Val319Leu
ENST00000355237.6:c.955G>C	ENSP00000347379.2:p.Val319Leu
ENST00000396442.6:c.955G>C	ENSP00000379719.2:p.Val319Leu
ENST00000538151.2:c.202G>C	ENSP00000445940.1:p.Val68Leu
NM_001205254.1:c.955G>C	NP_001192183.1:p.Val319Leu
NM_001205255.1:c.202G>C	NP_001192184.1:p.Val68Leu
NM_002538.3:c.955G>C	NP_002529.1:p.Val319Leu
XM_017008913.2:c.793G>C	XP_016864402.1:p.Val265Leu
XM_017008914.2:c.793G>C	XP_016864403.1:p.Val265Leu
NM_001205254.2:c.955G>C MANE Select	NP_001192183.1:p.Val319Leu
NM_002538.4:c.955G>C	NP_002529.1:p.Val319Leu