Canonical Allele Identifier: CA10623956

Gene: RETREG1

Linked Data

• ClinVar Variation Id: 352681
• ClinVar RCV Id: RCV000292271 ; RCV001613168
• dbSNP Id: rs32147
• gnomAD v2: 5-16474644-T-G
• gnomAD v3: 5-16474535-T-G
• gnomAD v4: 5-16474535-T-G
• MyVariant Identifiers: chr5:g.16474644T>G (hg19) ; chr5:g.16474535T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.16474535T>G , CM000667.2:g.16474535T>G	GRCh38
NC_000005.9:g.16474644T>G , CM000667.1:g.16474644T>G	GRCh37
NC_000005.8:g.16527644T>G	NCBI36
NG_016644.2:g.147475A>C , LRG_363:g.147475A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509977.2:n.1348A>C
ENST00000510362.6:c.*92+114A>C	ENSP00000425089.2:n.*92+114A>C
ENST00000682142.1:c.*206A>C	ENSP00000506804.1:n.*206A>C
ENST00000682229.1:c.*206A>C	ENSP00000507342.1:n.*206A>C
ENST00000682564.1:c.*206A>C	ENSP00000508099.1:n.*206A>C
ENST00000682628.1:c.*206A>C	ENSP00000507536.1:n.*206A>C
ENST00000682982.1:n.2474A>C
ENST00000683045.1:n.6244A>C
ENST00000683130.1:c.*946A>C	ENSP00000507709.1:n.*946A>C
ENST00000683169.1:n.2199A>C
ENST00000683414.1:c.*206A>C	ENSP00000508335.1:n.*206A>C
ENST00000683527.1:c.*999A>C	ENSP00000507253.1:n.*999A>C
ENST00000684456.1:c.*206A>C	ENSP00000508060.1:n.*206A>C
ENST00000684521.1:c.*206A>C	ENSP00000507521.1:n.*206A>C
ENST00000684695.1:n.3970A>C
ENST00000306320.10:c.*206A>C MANE Select	ENSP00000304642.9:n.*206A>C
ENST00000306320.9:c.*206A>C	ENSP00000304642.9:n.*206A>C
ENST00000399793.6:c.*206A>C	ENSP00000382691.2:n.*206A>C
ENST00000510362.5:c.745+114A>C
NM_001034850.2:c.*206A>C , LRG_363t1:c.*206A>C	NP_001030022.1:n.*206A>C
NM_019000.4:c.*206A>C	NP_061873.2:n.*206A>C
XM_011514053.1:c.*206A>C	XP_011512355.1:n.*206A>C
XM_011514054.1:c.*206A>C	XP_011512356.1:n.*206A>C
XM_011514055.1:c.*206A>C	XP_011512357.1:n.*206A>C
XM_011514053.3:c.*206A>C	XP_011512355.1:n.*206A>C
XM_011514054.2:c.*206A>C	XP_011512356.1:n.*206A>C
XM_011514055.3:c.*206A>C	XP_011512357.1:n.*206A>C
XM_024446117.1:c.*206A>C	XP_024301885.1:n.*206A>C
XM_024446118.1:c.*206A>C	XP_024301886.1:n.*206A>C
NM_001034850.3:c.*206A>C MANE Select	NP_001030022.1:n.*206A>C
NM_019000.5:c.*206A>C	NP_061873.2:n.*206A>C