Canonical Allele Identifier: CA122918648

Gene: PCSK1

Linked Data

• dbSNP Id: rs145127903
• gnomAD v2: 5-95751745-T-G
• gnomAD v4: 5-96416041-T-G
• MyVariant Identifiers: chr5:g.95751745T>G (hg19) ; chr5:g.96416041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416041T>G , CM000667.2:g.96416041T>G	GRCh38
NC_000005.9:g.95751745T>G , CM000667.1:g.95751745T>G	GRCh37
NC_000005.8:g.95777501T>G	NCBI36
NG_021161.1:g.22241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.701A>C MANE Select	ENSP00000308024.2:p.Lys234Thr
ENST00000311106.7:c.701A>C	ENSP00000308024.2:p.Lys234Thr
ENST00000508626.5:c.560A>C	ENSP00000421600.1:p.Lys187Thr
NM_000439.4:c.701A>C	NP_000430.3:p.Lys234Thr
NM_001177875.1:c.560A>C	NP_001171346.1:p.Lys187Thr
NR_130776.1:n.354+36389T>G
NM_000439.5:c.701A>C MANE Select	NP_000430.3:p.Lys234Thr
NM_001177875.2:c.560A>C	NP_001171346.1:p.Lys187Thr