Canonical Allele Identifier: CA15545198

Gene: ERI1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.9032588C>T , CM000670.2:g.9032588C>T	GRCh38
NC_000008.10:g.8890098C>T , CM000670.1:g.8890098C>T	GRCh37
NC_000008.9:g.8927508C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518663.2:c.299+12124C>T
ENST00000520332.6:c.399+12124C>T	ENSP00000518572.1:n.399+12124C>T
ENST00000522612.2:c.52+12124C>T
ENST00000250263.8:c.*2554C>T MANE Select	ENSP00000250263.7:n.*2554C>T
ENST00000250263.7:c.*2554C>T	ENSP00000250263.7:n.*2554C>T
ENST00000518663.1:n.299+12124C>T
ENST00000519292.5:c.*87C>T	ENSP00000430190.1:n.*87C>T
ENST00000520332.5:n.399+12124C>T
ENST00000522612.1:n.52+12124C>T
ENST00000523898.5:c.*2554C>T	ENSP00000429615.1:n.*2554C>T
NM_153332.3:c.*2554C>T	NP_699163.2:n.*2554C>T
XM_005272401.2:c.*2554C>T	XP_005272458.1:n.*2554C>T
XM_011543848.1:c.807+12124C>T	XP_011542150.1:n.807+12124C>T
XM_011543849.1:c.847C>T	XP_011542151.1:p.Arg283Cys
XM_011543850.1:c.*2554C>T	XP_011542152.1:n.*2554C>T
XM_011543851.1:c.*2554C>T	XP_011542153.1:n.*2554C>T
NM_001354635.1:c.*2554C>T	NP_001341564.1:n.*2554C>T
NM_001354636.1:c.*2554C>T	NP_001341565.1:n.*2554C>T
NM_001354638.1:c.807+12124C>T	NP_001341567.1:n.807+12124C>T
XM_005272401.3:c.*2554C>T	XP_005272458.1:n.*2554C>T
XM_011543849.2:c.847C>T	XP_011542151.1:p.Arg283Cys
XM_011543850.3:c.*2554C>T	XP_011542152.1:n.*2554C>T
XM_017013949.1:c.*2554C>T	XP_016869438.1:n.*2554C>T
XM_017013951.1:c.*2554C>T	XP_016869440.1:n.*2554C>T
XM_017013952.2:c.*2554C>T	XP_016869441.1:n.*2554C>T
XM_017013955.2:c.573+12124C>T	XP_016869444.1:n.573+12124C>T
XM_024447323.1:c.*2554C>T	XP_024303091.1:n.*2554C>T
NM_001354635.2:c.*2554C>T	NP_001341564.1:n.*2554C>T
NM_001354636.2:c.*2554C>T	NP_001341565.1:n.*2554C>T
NM_001354638.2:c.807+12124C>T	NP_001341567.1:n.807+12124C>T
NM_153332.4:c.*2554C>T MANE Select	NP_699163.2:n.*2554C>T