Canonical Allele Identifier: CA348075

Gene: EPSTI1

Linked Data

• ClinVar Variation Id: 219332
• ClinVar RCV Id: RCV000203801
• dbSNP Id: rs864622031
• COSMIC: COSM5783216
• MyVariant Identifiers: chr13:g.43538257G>A (hg19) ; chr13:g.42964121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42964121G>A , CM000675.2:g.42964121G>A	GRCh38
NC_000013.10:g.43538257G>A , CM000675.1:g.43538257G>A	GRCh37
NC_000013.9:g.42436257G>A	NCBI36
NG_051573.1:g.33192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313624.12:c.350C>T MANE Select	ENSP00000318643.7:p.Thr117Ile
ENST00000313624.11:c.350C>T	ENSP00000318643.7:p.Thr117Ile
ENST00000313640.11:c.350C>T	ENSP00000318982.7:p.Thr117Ile
ENST00000398762.7:c.350C>T	ENSP00000381746.3:p.Thr117Ile
ENST00000476830.6:n.449C>T
ENST00000537828.5:c.-32C>T	ENSP00000442662.1:n.-32C>T
ENST00000538562.5:c.*48C>T	ENSP00000444923.1:n.*48C>T
ENST00000540470.5:n.1890C>T
ENST00000542706.5:n.445C>T
NM_001002264.2:c.350C>T	NP_001002264.1:p.Thr117Ile
NM_033255.3:c.350C>T	NP_150280.1:p.Thr117Ile
XM_005266596.1:c.350C>T	XP_005266653.1:p.Thr117Ile
XM_005266597.1:c.350C>T	XP_005266654.1:p.Thr117Ile
XM_006719896.2:c.350C>T	XP_006719959.1:p.Thr117Ile
XM_011535311.1:c.350C>T	XP_011533613.1:p.Thr117Ile
XM_011535312.1:c.-32C>T	XP_011533614.1:n.-32C>T
XM_011535313.1:c.-32C>T	XP_011533615.1:n.-32C>T
NM_001002264.3:c.350C>T	NP_001002264.1:p.Thr117Ile
NM_001330543.1:c.350C>T	NP_001317472.1:p.Thr117Ile
NM_001331228.1:c.-32C>T	NP_001318157.1:n.-32C>T
NM_033255.4:c.350C>T	NP_150280.1:p.Thr117Ile
XM_006719896.4:c.350C>T	XP_006719959.1:p.Thr117Ile
XM_011535312.2:c.-32C>T	XP_011533614.1:n.-32C>T
XM_017020853.2:c.-32C>T	XP_016876342.1:n.-32C>T
XM_017020854.1:c.-32C>T	XP_016876343.1:n.-32C>T
XM_017020855.2:c.-32C>T	XP_016876344.1:n.-32C>T
NM_001002264.4:c.350C>T	NP_001002264.1:p.Thr117Ile
NM_001330543.2:c.350C>T	NP_001317472.1:p.Thr117Ile
NM_001331228.2:c.-32C>T	NP_001318157.1:n.-32C>T
NM_033255.5:c.350C>T MANE Select	NP_150280.1:p.Thr117Ile