Canonical Allele Identifier: CA251432
Gene: RETREG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330
ClinVar RCV Id: RCV000000358 RCV000760442 RCV000789751
dbSNP Id: rs137852737
MyVariant Identifiers: chr5:g.16565897G>A (hg19) chr5:g.16565788G>A (hg38)
PubMed: PMID:19838196 PMID:21089229
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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
Search 100 bp 5'
Search 100 bp 3'