Canonical Allele Identifier: CA2504660676

Gene: EPSTI1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42924418G>T , CM000675.2:g.42924418G>T	GRCh38
NC_000013.10:g.43498554G>T , CM000675.1:g.43498554G>T	GRCh37
NC_000013.9:g.42396554G>T	NCBI36
NG_051573.1:g.72895C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033255.5:c.657+1918C>A MANE Select	NP_150280.1:n.657+1918C>A
ENST00000313624.12:c.657+1918C>A MANE Select	ENSP00000318643.7:n.657+1918C>A
NM_001002264.2:c.657+1918C>A	NP_001002264.1:n.657+1918C>A
NM_001002264.3:c.657+1918C>A	NP_001002264.1:n.657+1918C>A
NM_001002264.4:c.657+1918C>A	NP_001002264.1:n.657+1918C>A
NM_001330543.1:c.657+1918C>A	NP_001317472.1:n.657+1918C>A
NM_001330543.2:c.657+1918C>A	NP_001317472.1:n.657+1918C>A
NM_001331228.1:c.276+1918C>A	NP_001318157.1:n.276+1918C>A
NM_001331228.2:c.276+1918C>A	NP_001318157.1:n.276+1918C>A
NM_033255.3:c.657+1918C>A	NP_150280.1:n.657+1918C>A
NM_033255.4:c.657+1918C>A	NP_150280.1:n.657+1918C>A
ENST00000313624.11:c.657+1918C>A	ENSP00000318643.7:n.657+1918C>A
ENST00000313640.11:c.657+1918C>A	ENSP00000318982.7:n.657+1918C>A
ENST00000398762.7:c.657+1918C>A	ENSP00000381746.3:n.657+1918C>A
ENST00000476830.6:n.756+1918C>A
ENST00000535677.5:n.327+1973C>A
ENST00000540470.5:n.2197+1918C>A
XM_005266596.1:c.657+1918C>A	XP_005266653.1:n.657+1918C>A
XM_005266597.1:c.657+1918C>A	XP_005266654.1:n.657+1918C>A
XM_006719896.2:c.657+1918C>A	XP_006719959.1:n.657+1918C>A
XM_006719896.4:c.657+1918C>A	XP_006719959.1:n.657+1918C>A
XM_011535311.1:c.657+1918C>A	XP_011533613.1:n.657+1918C>A
XM_011535312.1:c.276+1918C>A	XP_011533614.1:n.276+1918C>A
XM_011535312.2:c.276+1918C>A	XP_011533614.1:n.276+1918C>A
XM_011535313.1:c.276+1918C>A	XP_011533615.1:n.276+1918C>A
XM_011535314.1:c.111+1918C>A	XP_011533616.1:n.111+1918C>A
XM_017020853.2:c.276+1918C>A	XP_016876342.1:n.276+1918C>A
XM_017020854.1:c.276+1918C>A	XP_016876343.1:n.276+1918C>A
XM_017020855.2:c.276+1918C>A	XP_016876344.1:n.276+1918C>A