Canonical Allele Identifier: CA10622480
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 354628
ClinVar RCV Id: RCV000294746 RCV000351954
dbSNP Id: rs772439505
gnomAD v3: 5-96392164-C-T
gnomAD v4: 5-96392164-C-T
MyVariant Identifiers: chr5:g.95727868C>T (hg19) chr5:g.96392164C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96392164C>T , CM000667.2:g.96392164C>T GRCh38
NC_000005.9:g.95727868C>T , CM000667.1:g.95727868C>T GRCh37
NC_000005.8:g.95753624C>T NCBI36
NG_021161.1:g.46118G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311106.8:c.*837G>A MANE Select ENSP00000308024.2:n.*837G>A
ENST00000311106.7:c.*837G>A ENSP00000308024.2:n.*837G>A
NM_000439.4:c.*837G>A NP_000430.3:n.*837G>A
NM_001177875.1:c.*837G>A NP_001171346.1:n.*837G>A
NR_130776.1:n.354+12512C>T
NM_000439.5:c.*837G>A MANE Select NP_000430.3:n.*837G>A
NM_001177875.2:c.*837G>A NP_001171346.1:n.*837G>A
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