Canonical Allele Identifier: CA360485223

Gene: PCSK1

Linked Data

• dbSNP Id: rs1319360811
• gnomAD v2: 5-95764957-C-G
• gnomAD v4: 5-96429253-C-G
• MyVariant Identifiers: chr5:g.95764957C>G (hg19) ; chr5:g.96429253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429253C>G , CM000667.2:g.96429253C>G	GRCh38
NC_000005.9:g.95764957C>G , CM000667.1:g.95764957C>G	GRCh37
NC_000005.8:g.95790713C>G	NCBI36
NG_021161.1:g.9029G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.245G>C MANE Select	ENSP00000308024.2:p.Ser82Thr
ENST00000311106.7:c.245G>C	ENSP00000308024.2:p.Ser82Thr
ENST00000508626.5:c.104G>C	ENSP00000421600.1:p.Ser35Thr
ENST00000509190.1:c.245G>C	ENSP00000427294.1:p.Ser82Thr
NM_000439.4:c.245G>C	NP_000430.3:p.Ser82Thr
NM_001177875.1:c.104G>C	NP_001171346.1:p.Ser35Thr
NR_130776.1:n.354+49601C>G
NM_000439.5:c.245G>C MANE Select	NP_000430.3:p.Ser82Thr
NM_001177875.2:c.104G>C	NP_001171346.1:p.Ser35Thr