Canonical Allele Identifier: CA351833056

Gene: OSBPL10

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698199.1:c.760A>C	ENSP00000513603.1:p.Asn254His
ENST00000396556.7:c.760A>C MANE Select	ENSP00000379804.2:p.Asn254His
ENST00000673388.1:c.148A>C	ENSP00000500118.1:p.Asn50His
ENST00000396556.6:c.760A>C	ENSP00000379804.2:p.Asn254His
ENST00000428241.1:c.184A>C	ENSP00000399200.1:p.Asn62His
ENST00000429492.6:c.66A>C
ENST00000438237.6:c.568A>C	ENSP00000406124.2:p.Asn190His
ENST00000467647.1:n.172A>C
ENST00000467955.5:n.593A>C
ENST00000480671.5:n.335A>C
ENST00000485205.5:n.452A>C
NM_001174060.1:c.568A>C	NP_001167531.1:p.Asn190His
NM_017784.4:c.760A>C	NP_060254.2:p.Asn254His
XM_005264843.3:c.760A>C	XP_005264900.1:p.Asn254His
XM_005264844.3:c.568A>C	XP_005264901.1:p.Asn190His
XM_011533323.1:c.847A>C	XP_011531625.1:p.Asn283His
XM_011533324.1:c.847A>C	XP_011531626.1:p.Asn283His
XM_011533325.1:c.436A>C	XP_011531627.1:p.Asn146His
XM_011533326.1:c.349A>C	XP_011531628.1:p.Asn117His
XM_005264843.4:c.760A>C	XP_005264900.1:p.Asn254His
XM_005264844.5:c.568A>C	XP_005264901.1:p.Asn190His
XM_011533326.2:c.349A>C	XP_011531628.1:p.Asn117His
XM_017005670.2:c.106A>C	XP_016861159.1:p.Asn36His
NM_001174060.2:c.568A>C	NP_001167531.1:p.Asn190His
NM_017784.5:c.760A>C MANE Select	NP_060254.2:p.Asn254His