Canonical Allele Identifier: CA2674666442
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96416197-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416197G>T , CM000667.2:g.96416197G>T GRCh38
NC_000005.9:g.95751901G>T , CM000667.1:g.95751901G>T GRCh37
NC_000005.8:g.95777657G>T NCBI36
NG_021161.1:g.22085C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.621-76C>A MANE Select ENSP00000308024.2:n.621-76C>A
ENST00000311106.7:c.621-76C>A ENSP00000308024.2:n.621-76C>A
ENST00000508626.5:c.480-76C>A ENSP00000421600.1:n.480-76C>A
NM_000439.4:c.621-76C>A NP_000430.3:n.621-76C>A
NM_001177875.1:c.480-76C>A NP_001171346.1:n.480-76C>A
NR_130776.1:n.354+36545G>T
NM_000439.5:c.621-76C>A MANE Select NP_000430.3:n.621-76C>A
NM_001177875.2:c.480-76C>A NP_001171346.1:n.480-76C>A
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