Canonical Allele Identifier: CA251432

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 330
• ClinVar RCV Id: RCV000000358 ; RCV000760442 ; RCV000789751 ; RCV003447063
• dbSNP Id: rs137852737
• MyVariant Identifiers: chr5:g.16565897G>A (hg19) ; chr5:g.16565788G>A (hg38)
• PubMed: PMID:19838196 ; PMID:21089229

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16565788G>A , CM000667.2:g.16565788G>A	GRCh38
NC_000005.9:g.16565897G>A , CM000667.1:g.16565897G>A	GRCh37
NC_000005.8:g.16618897G>A	NCBI36
NG_016644.2:g.56222C>T , LRG_363:g.56222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682033.1:c.101C>T
ENST00000682229.1:c.433C>T	ENSP00000507342.1:p.Gln145Ter
ENST00000682564.1:c.433C>T	ENSP00000508099.1:p.Gln145Ter
ENST00000682828.1:n.430C>T
ENST00000682982.1:n.456C>T
ENST00000683045.1:n.459C>T
ENST00000683527.1:c.433C>T	ENSP00000507253.1:p.Gln145Ter
ENST00000684521.1:c.320+50864C>T	ENSP00000507521.1:n.320+50864C>T
ENST00000684695.1:n.451C>T
ENST00000306320.10:c.433C>T MANE Select	ENSP00000304642.9:p.Gln145Ter
ENST00000306320.9:c.433C>T	ENSP00000304642.9:p.Gln145Ter
NM_001034850.2:c.433C>T , LRG_363t1:c.433C>T	NP_001030022.1:p.Gln145Ter
XM_011514053.1:c.433C>T	XP_011512355.1:p.Gln145Ter
XM_011514053.3:c.433C>T	XP_011512355.1:p.Gln145Ter
NM_001034850.3:c.433C>T MANE Select	NP_001030022.1:p.Gln145Ter