Canonical Allele Identifier: CA2663493038

Gene: SP110 SP140

Linked Data

• gnomAD v4: 2-230216984-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230216984G>C , CM000664.2:g.230216984G>C	GRCh38
NC_000002.11:g.231081699G>C , CM000664.1:g.231081699G>C	GRCh37
NC_000002.10:g.230789943G>C	NCBI36
NG_008295.1:g.8129C>G , LRG_109:g.8129C>G
NG_051286.1:g.19061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.-462-1866C>G (SP110)	ENSP00000513566.1:n.-462-1866C>G
ENST00000489597.2:c.-1-56C>G (SP110)	ENSP00000513565.1:n.-1-56C>G
ENST00000698099.1:c.-1-56C>G (SP110)	ENSP00000513563.1:n.-1-56C>G
ENST00000698100.1:c.-1-56C>G (SP110)	ENSP00000513564.1:n.-1-56C>G
ENST00000698102.1:n.141-56C>G (SP110)
ENST00000698103.1:c.-1-56C>G (SP110)	ENSP00000513567.1:n.-1-56C>G
ENST00000698104.1:n.141-56C>G (SP110)
ENST00000258381.11:c.-1-56C>G (SP110) MANE Select	ENSP00000258381.6:n.-1-56C>G
ENST00000258382.10:c.-1-56C>G (SP110)	ENSP00000258382.5:n.-1-56C>G
ENST00000358662.9:c.-1-56C>G (SP110)	ENSP00000351488.4:n.-1-56C>G
ENST00000540870.5:c.18-56C>G (SP110)	ENSP00000439558.1:n.18-56C>G
ENST00000258381.10:c.-1-56C>G (SP110)	ENSP00000258381.6:n.-1-56C>G
ENST00000258382.9:c.-1-56C>G (SP110)	ENSP00000258382.5:n.-1-56C>G
ENST00000358662.8:c.-1-56C>G (SP110)	ENSP00000351488.4:n.-1-56C>G
ENST00000392048.7:c.-1-56C>G (SP110)	ENSP00000375902.3:n.-1-56C>G
ENST00000409815.6:c.-1-56C>G (SP110)	ENSP00000387172.2:n.-1-56C>G
ENST00000416610.1:c.-1-56C>G (SP110)	ENSP00000399978.1:n.-1-56C>G
ENST00000455674.2:c.-32-163C>G (SP110)	ENSP00000393992.1:n.-32-163C>G
ENST00000456542.5:c.-91+2910G>C (SP140)	ENSP00000475284.1:n.-91+2910G>C
ENST00000462232.1:n.117-1866C>G (SP110)
ENST00000540870.4:c.18-56C>G	ENSP00000439558.1:n.18-56C>G
NM_001185015.1:c.18-56C>G (SP110)	NP_001171944.1:n.18-56C>G
NM_004509.3:c.-1-56C>G (SP110)	NP_004500.3:n.-1-56C>G
NM_004510.3:c.-1-56C>G (SP110)	NP_004501.3:n.-1-56C>G
NM_080424.2:c.-1-56C>G , LRG_109t1:c.-1-56C>G (SP110)	NP_536349.2:n.-1-56C>G
XM_005246525.2:c.18-56C>G (SP110)	XP_005246582.1:n.18-56C>G
XM_006712487.2:c.18-56C>G (SP110)	XP_006712550.1:n.18-56C>G
XM_006712489.2:c.18-56C>G (SP110)	XP_006712552.1:n.18-56C>G
XM_011510517.1:c.-2+2910G>C (SP140)	XP_011508819.1:n.-2+2910G>C
XM_011511088.1:c.18-56C>G (SP110)	XP_011509390.1:n.18-56C>G
XM_011511089.1:c.-1-56C>G (SP110)	XP_011509391.1:n.-1-56C>G
XM_011511090.1:c.18-56C>G (SP110)	XP_011509392.1:n.18-56C>G
XM_011511091.1:c.18-56C>G (SP110)	XP_011509393.1:n.18-56C>G
XM_011511092.1:c.-462-1866C>G (SP110)	XP_011509394.1:n.-462-1866C>G
XM_005246525.4:c.18-56C>G (SP110)	XP_005246582.1:n.18-56C>G
XM_006712487.3:c.18-56C>G (SP110)	XP_006712550.1:n.18-56C>G
XM_006712489.4:c.18-56C>G (SP110)	XP_006712552.1:n.18-56C>G
XM_011510517.3:c.-2+2910G>C (SP140)	XP_011508819.1:n.-2+2910G>C
XM_011511088.3:c.18-56C>G (SP110)	XP_011509390.1:n.18-56C>G
XM_011511089.3:c.-1-56C>G (SP110)	XP_011509391.1:n.-1-56C>G
XM_011511090.3:c.18-56C>G (SP110)	XP_011509392.1:n.18-56C>G
XM_011511091.3:c.18-56C>G (SP110)	XP_011509393.1:n.18-56C>G
XM_011511092.3:c.-462-1866C>G (SP110)	XP_011509394.1:n.-462-1866C>G
XM_017003968.2:c.18-56C>G (SP110)	XP_016859457.1:n.18-56C>G
XM_017003969.1:c.18-56C>G (SP110)	XP_016859458.1:n.18-56C>G
XM_024452850.1:c.18-56C>G (SP110)	XP_024308618.1:n.18-56C>G
XM_024452851.1:c.-1-56C>G (SP110)	XP_024308619.1:n.-1-56C>G
NM_001185015.2:c.18-56C>G (SP110)	NP_001171944.1:n.18-56C>G
NM_004509.4:c.-1-56C>G (SP110)	NP_004500.4:n.-1-56C>G
NM_004510.4:c.-1-56C>G (SP110)	NP_004501.4:n.-1-56C>G
NM_080424.3:c.-1-56C>G (SP110)	NP_536349.3:n.-1-56C>G
NM_001378442.1:c.18-56C>G (SP110)	NP_001365371.1:n.18-56C>G
NM_001378443.1:c.-1-56C>G (SP110)	NP_001365372.1:n.-1-56C>G
NM_001378444.1:c.18-56C>G (SP110)	NP_001365373.1:n.18-56C>G
NM_001378445.1:c.18-56C>G (SP110)	NP_001365374.1:n.18-56C>G
NM_001378446.1:c.18-56C>G (SP110)	NP_001365375.1:n.18-56C>G
NM_001378447.1:c.-1-56C>G (SP110)	NP_001365376.1:n.-1-56C>G
NM_004509.5:c.-1-56C>G (SP110)	NP_004500.4:n.-1-56C>G
NM_080424.4:c.-1-56C>G (SP110) MANE Select	NP_536349.3:n.-1-56C>G