Canonical Allele Identifier: CA4178175

Gene: SP4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21429491C>T , CM000669.2:g.21429491C>T	GRCh38
NC_000007.13:g.21469109C>T , CM000669.1:g.21469109C>T	GRCh37
NC_000007.12:g.21435634C>T	NCBI36
NG_050737.1:g.6458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222584.8:c.326C>T MANE Select	ENSP00000222584.3:p.Pro109Leu
ENST00000649633.1:c.275C>T	ENSP00000496957.1:p.Pro92Leu
ENST00000222584.7:c.326C>T	ENSP00000222584.3:p.Pro109Leu
ENST00000432066.2:c.7+1233C>T	ENSP00000393623.2:n.7+1233C>T
ENST00000448246.1:c.123+699C>T	ENSP00000390817.1:n.123+699C>T
NM_003112.3:c.326C>T	NP_003103.2:p.Pro109Leu
XM_005249828.1:c.275C>T	XP_005249885.1:p.Pro92Leu
XM_005249829.2:c.326C>T	XP_005249886.1:p.Pro109Leu
XM_011515486.1:c.326C>T	XP_011513788.1:p.Pro109Leu
XM_011515487.1:c.326C>T	XP_011513789.1:p.Pro109Leu
XM_011515488.1:c.326C>T	XP_011513790.1:p.Pro109Leu
XM_011515489.1:c.326C>T	XP_011513791.1:p.Pro109Leu
XR_926945.1:n.478C>T
NM_001326542.1:c.275C>T	NP_001313471.1:p.Pro92Leu
NM_001326543.1:c.-614C>T	NP_001313472.1:n.-614C>T
NM_003112.4:c.326C>T	NP_003103.2:p.Pro109Leu
XM_005249829.4:c.326C>T	XP_005249886.1:p.Pro109Leu
XM_011515486.2:c.326C>T	XP_011513788.1:p.Pro109Leu
XM_011515487.2:c.326C>T	XP_011513789.1:p.Pro109Leu
XM_017012557.1:c.326C>T	XP_016868046.1:p.Pro109Leu
NM_003112.5:c.326C>T MANE Select	NP_003103.2:p.Pro109Leu
NM_001326542.2:c.275C>T	NP_001313471.1:p.Pro92Leu
NM_001326543.2:c.-614C>T	NP_001313472.1:n.-614C>T