Canonical Allele Identifier: CA350903368

Gene: SP110

Linked Data

• MyVariant Identifiers: chr2:g.231042375C>A (hg19) ; chr2:g.230177659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230177659C>A , CM000664.2:g.230177659C>A	GRCh38
NC_000002.11:g.231042375C>A , CM000664.1:g.231042375C>A	GRCh37
NC_000002.10:g.230750619C>A	NCBI36
NG_008295.1:g.47453G>T , LRG_109:g.47453G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.860G>T	ENSP00000513566.1:p.Arg287Leu
ENST00000489597.2:c.1469G>T	ENSP00000513565.1:p.Arg490Leu
ENST00000698099.1:c.1469G>T	ENSP00000513563.1:p.Arg490Leu
ENST00000698100.1:c.1319G>T	ENSP00000513564.1:p.Arg440Leu
ENST00000698101.1:n.191G>T
ENST00000698102.1:n.2285G>T
ENST00000698103.1:c.1319G>T	ENSP00000513567.1:p.Arg440Leu
ENST00000258381.11:c.1469G>T MANE Select	ENSP00000258381.6:p.Arg490Leu
ENST00000258382.10:c.1469G>T	ENSP00000258382.5:p.Arg490Leu
ENST00000358662.9:c.1469G>T	ENSP00000351488.4:p.Arg490Leu
ENST00000540870.5:c.1487G>T	ENSP00000439558.1:p.Arg496Leu
ENST00000258381.10:c.1469G>T	ENSP00000258381.6:p.Arg490Leu
ENST00000258382.9:c.1469G>T	ENSP00000258382.5:p.Arg490Leu
ENST00000358662.8:c.1469G>T	ENSP00000351488.4:p.Arg490Leu
ENST00000392048.7:c.1463G>T	ENSP00000375902.3:p.Arg488Leu
ENST00000489597.1:n.123G>T
ENST00000540870.4:c.1487G>T	ENSP00000439558.1:p.Arg496Leu
NM_001185015.1:c.1487G>T	NP_001171944.1:p.Arg496Leu
NM_004509.3:c.1469G>T	NP_004500.3:p.Arg490Leu
NM_004510.3:c.1469G>T	NP_004501.3:p.Arg490Leu
NM_080424.2:c.1469G>T , LRG_109t1:c.1469G>T	NP_536349.2:p.Arg490Leu
XM_005246525.2:c.1487G>T	XP_005246582.1:p.Arg496Leu
XM_006712487.2:c.1487G>T	XP_006712550.1:p.Arg496Leu
XM_006712489.2:c.1487G>T	XP_006712552.1:p.Arg496Leu
XM_011511088.1:c.1487G>T	XP_011509390.1:p.Arg496Leu
XM_011511089.1:c.1469G>T	XP_011509391.1:p.Arg490Leu
XM_011511090.1:c.1337G>T	XP_011509392.1:p.Arg446Leu
XM_011511091.1:c.1487G>T	XP_011509393.1:p.Arg496Leu
XM_011511092.1:c.860G>T	XP_011509394.1:p.Arg287Leu
XM_005246525.4:c.1487G>T	XP_005246582.1:p.Arg496Leu
XM_006712487.3:c.1487G>T	XP_006712550.1:p.Arg496Leu
XM_006712489.4:c.1487G>T	XP_006712552.1:p.Arg496Leu
XM_011511088.3:c.1487G>T	XP_011509390.1:p.Arg496Leu
XM_011511089.3:c.1469G>T	XP_011509391.1:p.Arg490Leu
XM_011511090.3:c.1337G>T	XP_011509392.1:p.Arg446Leu
XM_011511091.3:c.1487G>T	XP_011509393.1:p.Arg496Leu
XM_011511092.3:c.860G>T	XP_011509394.1:p.Arg287Leu
XM_017003968.2:c.1487G>T	XP_016859457.1:p.Arg496Leu
XM_017003969.1:c.1337G>T	XP_016859458.1:p.Arg446Leu
XM_024452850.1:c.1337G>T	XP_024308618.1:p.Arg446Leu
XM_024452851.1:c.1319G>T	XP_024308619.1:p.Arg440Leu
NM_001185015.2:c.1487G>T	NP_001171944.1:p.Arg496Leu
NM_004509.4:c.1469G>T	NP_004500.4:p.Arg490Leu
NM_004510.4:c.1469G>T	NP_004501.4:p.Arg490Leu
NM_080424.3:c.1469G>T	NP_536349.3:p.Arg490Leu
NM_001378442.1:c.1487G>T	NP_001365371.1:p.Arg496Leu
NM_001378443.1:c.1469G>T	NP_001365372.1:p.Arg490Leu
NM_001378444.1:c.1487G>T	NP_001365373.1:p.Arg496Leu
NM_001378445.1:c.1487G>T	NP_001365374.1:p.Arg496Leu
NM_001378446.1:c.1487G>T	NP_001365375.1:p.Arg496Leu
NM_001378447.1:c.1319G>T	NP_001365376.1:p.Arg440Leu
NM_004509.5:c.1469G>T	NP_004500.4:p.Arg490Leu
NM_080424.4:c.1469G>T MANE Select	NP_536349.3:p.Arg490Leu