Canonical Allele Identifier: CA2295903

Gene: OSBPL10

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.31748090T>C , CM000665.2:g.31748090T>C	GRCh38
NC_000003.11:g.31789582T>C , CM000665.1:g.31789582T>C	GRCh37
NC_000003.10:g.31764586T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698199.1:c.760A>G	ENSP00000513603.1:p.Asn254Asp
ENST00000396556.7:c.760A>G MANE Select	ENSP00000379804.2:p.Asn254Asp
ENST00000673388.1:c.148A>G	ENSP00000500118.1:p.Asn50Asp
ENST00000396556.6:c.760A>G	ENSP00000379804.2:p.Asn254Asp
ENST00000428241.1:c.184A>G	ENSP00000399200.1:p.Asn62Asp
ENST00000429492.6:c.66A>G
ENST00000438237.6:c.568A>G	ENSP00000406124.2:p.Asn190Asp
ENST00000467647.1:n.172A>G
ENST00000467955.5:n.593A>G
ENST00000480671.5:n.335A>G
ENST00000485205.5:n.452A>G
NM_001174060.1:c.568A>G	NP_001167531.1:p.Asn190Asp
NM_017784.4:c.760A>G	NP_060254.2:p.Asn254Asp
XM_005264843.3:c.760A>G	XP_005264900.1:p.Asn254Asp
XM_005264844.3:c.568A>G	XP_005264901.1:p.Asn190Asp
XM_011533323.1:c.847A>G	XP_011531625.1:p.Asn283Asp
XM_011533324.1:c.847A>G	XP_011531626.1:p.Asn283Asp
XM_011533325.1:c.436A>G	XP_011531627.1:p.Asn146Asp
XM_011533326.1:c.349A>G	XP_011531628.1:p.Asn117Asp
XM_005264843.4:c.760A>G	XP_005264900.1:p.Asn254Asp
XM_005264844.5:c.568A>G	XP_005264901.1:p.Asn190Asp
XM_011533326.2:c.349A>G	XP_011531628.1:p.Asn117Asp
XM_017005670.2:c.106A>G	XP_016861159.1:p.Asn36Asp
NM_001174060.2:c.568A>G	NP_001167531.1:p.Asn190Asp
NM_017784.5:c.760A>G MANE Select	NP_060254.2:p.Asn254Asp