Canonical Allele Identifier: CA5541286

Gene: SGPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70869810C>T , CM000672.2:g.70869810C>T	GRCh38
NC_000010.10:g.72629567C>T , CM000672.1:g.72629567C>T	GRCh37
NC_000010.9:g.72299573C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697924.1:n.1979C>T
ENST00000697925.1:c.*98C>T	ENSP00000513479.1:n.*98C>T
ENST00000697926.1:c.483C>T	ENSP00000513480.1:p.Ala161=
ENST00000697927.1:c.483C>T	ENSP00000513481.1:p.Ala161=
ENST00000697928.1:c.723C>T	ENSP00000513482.1:p.Ala241=
ENST00000697930.1:c.483C>T	ENSP00000513484.1:p.Ala161=
ENST00000697931.1:c.723C>T	ENSP00000513485.1:p.Ala241=
ENST00000697932.1:c.723C>T	ENSP00000513486.1:p.Ala241=
ENST00000697988.1:c.483C>T	ENSP00000513492.1:p.Ala161=
ENST00000697989.1:c.*1199C>T	ENSP00000513493.1:n.*1199C>T
ENST00000373202.8:c.723C>T MANE Select	ENSP00000362298.3:p.Ala241=
ENST00000373202.7:c.723C>T	ENSP00000362298.3:p.Ala241=
ENST00000613857.4:n.325C>T
ENST00000618021.1:n.258C>T
ENST00000620724.4:n.638C>T
NM_003901.3:c.723C>T	NP_003892.2:p.Ala241=
XM_005270263.1:c.723C>T	XP_005270320.1:p.Ala241=
XM_006718053.1:c.483C>T	XP_006718116.1:p.Ala161=
XM_011540316.1:c.723C>T	XP_011538618.1:p.Ala241=
XM_011540317.1:c.723C>T	XP_011538619.1:p.Ala241=
XM_011540318.1:c.483C>T	XP_011538620.1:p.Ala161=
XM_011540319.1:c.78C>T	XP_011538621.1:p.Ala26=
XM_011540316.2:c.723C>T	XP_011538618.1:p.Ala241=
NM_003901.4:c.723C>T MANE Select	NP_003892.2:p.Ala241=