Canonical Allele Identifier: CA360066486

Gene: OCLN

Linked Data

• gnomAD v3: 5-69534724-G-T
• gnomAD v4: 5-69534724-G-T
• MyVariant Identifiers: chr5:g.68830551G>T (hg19) ; chr5:g.69534724G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.69534724G>T , CM000667.2:g.69534724G>T	GRCh38
NC_000005.9:g.68830551G>T , CM000667.1:g.68830551G>T	GRCh37
NC_000005.8:g.68866307G>T	NCBI36
NG_028291.1:g.47433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396442.7:c.922G>T MANE Select	ENSP00000379719.2:p.Val308Leu
ENST00000680027.1:c.922G>T	ENSP00000506162.1:p.Val308Leu
ENST00000680496.1:c.760G>T	ENSP00000504966.1:p.Val254Leu
ENST00000680784.1:c.760G>T	ENSP00000506305.1:p.Val254Leu
ENST00000681041.1:c.922G>T	ENSP00000505426.1:p.Val308Leu
ENST00000681586.1:c.922G>T	ENSP00000505541.1:p.Val308Leu
ENST00000681588.1:c.*98G>T	ENSP00000506017.1:n.*98G>T
ENST00000681895.1:c.922G>T	ENSP00000505831.1:p.Val308Leu
ENST00000355237.6:c.922G>T	ENSP00000347379.2:p.Val308Leu
ENST00000396442.6:c.922G>T	ENSP00000379719.2:p.Val308Leu
ENST00000538151.2:c.169G>T	ENSP00000445940.1:p.Val57Leu
NM_001205254.1:c.922G>T	NP_001192183.1:p.Val308Leu
NM_001205255.1:c.169G>T	NP_001192184.1:p.Val57Leu
NM_002538.3:c.922G>T	NP_002529.1:p.Val308Leu
XM_017008913.2:c.760G>T	XP_016864402.1:p.Val254Leu
XM_017008914.2:c.760G>T	XP_016864403.1:p.Val254Leu
NM_001205254.2:c.922G>T MANE Select	NP_001192183.1:p.Val308Leu
NM_002538.4:c.922G>T	NP_002529.1:p.Val308Leu