Canonical Allele Identifier: CA2709555217
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs2112446736

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96426775T>G , CM000667.2:g.96426775T>G GRCh38
NC_000005.9:g.95762479T>G , CM000667.1:g.95762479T>G GRCh37
NC_000005.8:g.95788235T>G NCBI36
NG_021161.1:g.11507A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000311106.8:c.286-845A>C MANE Select ENSP00000308024.2:n.286-845A>C
ENST00000311106.7:c.286-845A>C ENSP00000308024.2:n.286-845A>C
ENST00000508626.5:c.145-845A>C ENSP00000421600.1:n.145-845A>C
ENST00000509190.1:c.286-845A>C ENSP00000427294.1:n.286-845A>C
NM_000439.4:c.286-845A>C NP_000430.3:n.286-845A>C
NM_001177875.1:c.145-845A>C NP_001171346.1:n.145-845A>C
NR_130776.1:n.354+47123T>G
NM_000439.5:c.286-845A>C MANE Select NP_000430.3:n.286-845A>C
NM_001177875.2:c.145-845A>C NP_001171346.1:n.145-845A>C