Canonical Allele Identifier: CA2663486713

Gene: SP110

Linked Data

• gnomAD v4: 2-230177479-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230177479G>A , CM000664.2:g.230177479G>A	GRCh38
NC_000002.11:g.231042195G>A , CM000664.1:g.231042195G>A	GRCh37
NC_000002.10:g.230750439G>A	NCBI36
NG_008295.1:g.47633C>T , LRG_109:g.47633C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000462232.2:c.981+59C>T	ENSP00000513566.1:n.981+59C>T
ENST00000489597.2:c.*50C>T	ENSP00000513565.1:n.*50C>T
ENST00000698099.1:c.1590+59C>T	ENSP00000513563.1:n.1590+59C>T
ENST00000698100.1:c.1440+59C>T	ENSP00000513564.1:n.1440+59C>T
ENST00000698101.1:n.371C>T
ENST00000698102.1:n.2465C>T
ENST00000698103.1:c.*50C>T	ENSP00000513567.1:n.*50C>T
ENST00000258381.11:c.1590+59C>T MANE Select	ENSP00000258381.6:n.1590+59C>T
ENST00000258382.10:c.1590+59C>T	ENSP00000258382.5:n.1590+59C>T
ENST00000358662.9:c.1590+59C>T	ENSP00000351488.4:n.1590+59C>T
ENST00000540870.5:c.1608+59C>T	ENSP00000439558.1:n.1608+59C>T
ENST00000258381.10:c.1590+59C>T	ENSP00000258381.6:n.1590+59C>T
ENST00000258382.9:c.1590+59C>T	ENSP00000258382.5:n.1590+59C>T
ENST00000358662.8:c.1590+59C>T	ENSP00000351488.4:n.1590+59C>T
ENST00000392048.7:c.1584+59C>T	ENSP00000375902.3:n.1584+59C>T
ENST00000489597.1:n.303C>T
ENST00000540870.4:c.1608+59C>T	ENSP00000439558.1:n.1608+59C>T
NM_001185015.1:c.1608+59C>T	NP_001171944.1:n.1608+59C>T
NM_004509.3:c.1590+59C>T	NP_004500.3:n.1590+59C>T
NM_004510.3:c.1590+59C>T	NP_004501.3:n.1590+59C>T
NM_080424.2:c.1590+59C>T , LRG_109t1:c.1590+59C>T	NP_536349.2:n.1590+59C>T
XM_005246525.2:c.1608+59C>T	XP_005246582.1:n.1608+59C>T
XM_006712487.2:c.1608+59C>T	XP_006712550.1:n.1608+59C>T
XM_006712489.2:c.1608+59C>T	XP_006712552.1:n.1608+59C>T
XM_011511088.1:c.1608+59C>T	XP_011509390.1:n.1608+59C>T
XM_011511089.1:c.1590+59C>T	XP_011509391.1:n.1590+59C>T
XM_011511090.1:c.1458+59C>T	XP_011509392.1:n.1458+59C>T
XM_011511091.1:c.1608+59C>T	XP_011509393.1:n.1608+59C>T
XM_011511092.1:c.981+59C>T	XP_011509394.1:n.981+59C>T
XM_005246525.4:c.1608+59C>T	XP_005246582.1:n.1608+59C>T
XM_006712487.3:c.1608+59C>T	XP_006712550.1:n.1608+59C>T
XM_006712489.4:c.1608+59C>T	XP_006712552.1:n.1608+59C>T
XM_011511088.3:c.1608+59C>T	XP_011509390.1:n.1608+59C>T
XM_011511089.3:c.1590+59C>T	XP_011509391.1:n.1590+59C>T
XM_011511090.3:c.1458+59C>T	XP_011509392.1:n.1458+59C>T
XM_011511091.3:c.1608+59C>T	XP_011509393.1:n.1608+59C>T
XM_011511092.3:c.981+59C>T	XP_011509394.1:n.981+59C>T
XM_017003968.2:c.1608+59C>T	XP_016859457.1:n.1608+59C>T
XM_017003969.1:c.1458+59C>T	XP_016859458.1:n.1458+59C>T
XM_024452850.1:c.1458+59C>T	XP_024308618.1:n.1458+59C>T
XM_024452851.1:c.1440+59C>T	XP_024308619.1:n.1440+59C>T
NM_001185015.2:c.1608+59C>T	NP_001171944.1:n.1608+59C>T
NM_004509.4:c.1590+59C>T	NP_004500.4:n.1590+59C>T
NM_004510.4:c.1590+59C>T	NP_004501.4:n.1590+59C>T
NM_080424.3:c.1590+59C>T	NP_536349.3:n.1590+59C>T
NM_001378442.1:c.1608+59C>T	NP_001365371.1:n.1608+59C>T
NM_001378443.1:c.1590+59C>T	NP_001365372.1:n.1590+59C>T
NM_001378444.1:c.1608+59C>T	NP_001365373.1:n.1608+59C>T
NM_001378445.1:c.1608+59C>T	NP_001365374.1:n.1608+59C>T
NM_001378446.1:c.1608+59C>T	NP_001365375.1:n.1608+59C>T
NM_001378447.1:c.1440+59C>T	NP_001365376.1:n.1440+59C>T
NM_004509.5:c.1590+59C>T	NP_004500.4:n.1590+59C>T
NM_080424.4:c.1590+59C>T MANE Select	NP_536349.3:n.1590+59C>T