Canonical Allele Identifier: CA335708266

Gene: OCRL

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.129589215A>G , CM000685.2:g.129589215A>G	GRCh38
NC_000023.10:g.128723192A>G , CM000685.1:g.128723192A>G	GRCh37
NC_000023.9:g.128550873A>G	NCBI36
NG_008638.1:g.53941A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000276.4:c.2469+202A>G MANE Select	NP_000267.2:n.2469+202A>G
ENST00000371113.9:c.2469+202A>G MANE Select	ENSP00000360154.4:n.2469+202A>G
NM_000276.3:c.2469+202A>G	NP_000267.2:n.2469+202A>G
NM_001318784.1:c.2472+202A>G	NP_001305713.1:n.2472+202A>G
NM_001318784.2:c.2472+202A>G	NP_001305713.1:n.2472+202A>G
NM_001587.3:c.2445+202A>G	NP_001578.2:n.2445+202A>G
NM_001587.4:c.2445+202A>G	NP_001578.2:n.2445+202A>G
ENST00000357121.5:c.2445+202A>G	ENSP00000349635.5:n.2445+202A>G
ENST00000371113.8:c.2469+202A>G	ENSP00000360154.4:n.2469+202A>G
ENST00000646010.1:c.2517+202A>G
ENST00000646914.1:c.1647-22A>G
ENST00000647245.1:c.2020+202A>G
ENST00000693473.1:c.2586+202A>G
XM_005262422.1:c.1998+202A>G	XP_005262479.1:n.1998+202A>G
XM_005262422.2:c.1998+202A>G	XP_005262479.1:n.1998+202A>G
XM_011531342.1:c.2472+202A>G	XP_011529644.1:n.2472+202A>G
XM_011531343.1:c.2448+202A>G	XP_011529645.1:n.2448+202A>G
XM_011531344.1:c.2325+202A>G	XP_011529646.1:n.2325+202A>G
XM_011531344.3:c.2325+202A>G	XP_011529646.1:n.2325+202A>G
XM_011531345.1:c.2325+202A>G	XP_011529647.1:n.2325+202A>G
XM_011531345.3:c.2325+202A>G	XP_011529647.1:n.2325+202A>G