Canonical Allele Identifier: CA2709562343
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2112429124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96415896A>G , CM000667.2:g.96415896A>G GRCh38
NC_000005.9:g.95751600A>G , CM000667.1:g.95751600A>G GRCh37
NC_000005.8:g.95777356A>G NCBI36
NG_021161.1:g.22386T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.709+137T>C MANE Select ENSP00000308024.2:n.709+137T>C
ENST00000311106.7:c.709+137T>C ENSP00000308024.2:n.709+137T>C
ENST00000508626.5:c.568+137T>C ENSP00000421600.1:n.568+137T>C
NM_000439.4:c.709+137T>C NP_000430.3:n.709+137T>C
NM_001177875.1:c.568+137T>C NP_001171346.1:n.568+137T>C
NR_130776.1:n.354+36244A>G
NM_000439.5:c.709+137T>C MANE Select NP_000430.3:n.709+137T>C
NM_001177875.2:c.568+137T>C NP_001171346.1:n.568+137T>C
Search 100 bp 5'
Search 100 bp 3'