Canonical Allele Identifier: CA6637758
Gene: PRIM1 HGNC NCBI
HSD17B6 HGNC NCBI
COSMIC:
COSM4997965 (not active)
MyVariant.info:
GRCh38 chr12:g.56752285T>G
GRCh37 chr12:g.57146069T>G
Revel Score:
ENST00000537418 0.233
ENST00000338193 (MANE Select) 0.233
ENST00000550770 0.233
gnomAD v2:
12:57146069 T / G
gnomAD v3:
12:56752285 T / G
gnomAD v4:
chr12-56752285-T-G
Joint Max Group AF 0.20945139 (EAS)
Genomes Max Group AF 0.20856487 (EAS)
Exomes Max Group AF 0.20840588 (EAS)
ClinVar RCV:
RCV001647852
ClinVar Variation:
1242002
dbSNP:
2277339
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56752285T>G , CM000674.2:g.56752285T>G GRCh38
NC_000012.11:g.57146069T>G , CM000674.1:g.57146069T>G GRCh37
NC_000012.10:g.55432336T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706566.1:c.14A>C (PRIM1) ENSP00000516451.1:p.Asp5Ala
ENST00000706567.1:c.14A>C (PRIM1) ENSP00000516452.1:p.Asp5Ala
ENST00000338193.11:c.14A>C (PRIM1) MANE Select ENSP00000350491.5:p.Asp5Ala
ENST00000672280.1:c.14A>C (PRIM1) ENSP00000500157.1:p.Asp5Ala
ENST00000338193.10:c.14A>C (PRIM1) ENSP00000350491.5:p.Asp5Ala
ENST00000548173.5:n.55A>C (PRIM1)
ENST00000550224.5:n.29A>C (PRIM1)
ENST00000550770.1:c.14A>C (PRIM1) ENSP00000450185.1:p.Asp5Ala
ENST00000552590.6:c.14A>C (PRIM1) ENSP00000448178.1:p.Asp5Ala
ENST00000555159.5:c.-53T>G (HSD17B6) ENSP00000450698.1:n.-53T>G
ENST00000555805.5:c.-250T>G (HSD17B6) ENSP00000451753.1:n.-250T>G
NM_000946.2:c.14A>C (PRIM1) NP_000937.1:p.Asp5Ala
NM_000946.3:c.14A>C (PRIM1) MANE Select NP_000937.1:p.Asp5Ala
Search 100 bp 5'
Search 100 bp 3'