Canonical Allele Identifier: CA360483009

Gene: PCSK1

Linked Data

• dbSNP Id: rs1443295061
• gnomAD v3: 5-96416054-C-A
• gnomAD v4: 5-96416054-C-A
• MyVariant Identifiers: chr5:g.95751758C>A (hg19) ; chr5:g.96416054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416054C>A , CM000667.2:g.96416054C>A	GRCh38
NC_000005.9:g.95751758C>A , CM000667.1:g.95751758C>A	GRCh37
NC_000005.8:g.95777514C>A	NCBI36
NG_021161.1:g.22228G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.688G>T MANE Select	ENSP00000308024.2:p.Ala230Ser
ENST00000311106.7:c.688G>T	ENSP00000308024.2:p.Ala230Ser
ENST00000508626.5:c.547G>T	ENSP00000421600.1:p.Ala183Ser
NM_000439.4:c.688G>T	NP_000430.3:p.Ala230Ser
NM_001177875.1:c.547G>T	NP_001171346.1:p.Ala183Ser
NR_130776.1:n.354+36402C>A
NM_000439.5:c.688G>T MANE Select	NP_000430.3:p.Ala230Ser
NM_001177875.2:c.547G>T	NP_001171346.1:p.Ala183Ser