Canonical Allele Identifier: CA2663486394

Gene: SP110

Linked Data

• gnomAD v4: 2-230168808-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230168808G>T , CM000664.2:g.230168808G>T	GRCh38
NC_000002.11:g.231033524G>T , CM000664.1:g.231033524G>T	GRCh37
NC_000002.10:g.230741768G>T	NCBI36
NG_008295.1:g.56304C>A , LRG_109:g.56304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698099.1:c.*77+239C>A	ENSP00000513563.1:n.*77+239C>A
ENST00000698100.1:c.*77+239C>A	ENSP00000513564.1:n.*77+239C>A
ENST00000258381.11:c.*316C>A MANE Select	ENSP00000258381.6:n.*316C>A
ENST00000358662.9:c.*316C>A	ENSP00000351488.4:n.*316C>A
ENST00000477068.1:n.1210C>A
XM_005246525.2:c.*316C>A	XP_005246582.1:n.*316C>A
XM_006712487.2:c.*316C>A	XP_006712550.1:n.*316C>A
XM_006712489.2:c.*316C>A	XP_006712552.1:n.*316C>A
XM_011511088.1:c.*316C>A	XP_011509390.1:n.*316C>A
XM_011511089.1:c.*316C>A	XP_011509391.1:n.*316C>A
XM_011511090.1:c.*316C>A	XP_011509392.1:n.*316C>A
XM_011511091.1:c.*316C>A	XP_011509393.1:n.*316C>A
XM_011511092.1:c.*316C>A	XP_011509394.1:n.*316C>A
XM_005246525.4:c.*316C>A	XP_005246582.1:n.*316C>A
XM_006712489.4:c.*316C>A	XP_006712552.1:n.*316C>A
XM_011511088.3:c.*316C>A	XP_011509390.1:n.*316C>A
XM_011511091.3:c.*316C>A	XP_011509393.1:n.*316C>A
XM_024452850.1:c.*316C>A	XP_024308618.1:n.*316C>A
NM_004509.4:c.*316C>A	NP_004500.4:n.*316C>A
NM_080424.3:c.*316C>A	NP_536349.3:n.*316C>A
NM_001378442.1:c.*316C>A	NP_001365371.1:n.*316C>A
NM_001378443.1:c.*316C>A	NP_001365372.1:n.*316C>A
NM_001378444.1:c.*316C>A	NP_001365373.1:n.*316C>A
NM_001378445.1:c.*316C>A	NP_001365374.1:n.*316C>A
NM_001378446.1:c.*316C>A	NP_001365375.1:n.*316C>A
NM_004509.5:c.*316C>A	NP_004500.4:n.*316C>A
NM_080424.4:c.*316C>A MANE Select	NP_536349.3:n.*316C>A