Canonical Allele Identifier: CA2578366390
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429330-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429330A>G , CM000667.2:g.96429330A>G GRCh38
NC_000005.9:g.95765034A>G , CM000667.1:g.95765034A>G GRCh37
NC_000005.8:g.95790790A>G NCBI36
NG_021161.1:g.8952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-13T>C MANE Select ENSP00000308024.2:n.181-13T>C
ENST00000311106.7:c.181-13T>C ENSP00000308024.2:n.181-13T>C
ENST00000508626.5:c.40-13T>C ENSP00000421600.1:n.40-13T>C
ENST00000509190.1:c.181-13T>C ENSP00000427294.1:n.181-13T>C
NM_000439.4:c.181-13T>C NP_000430.3:n.181-13T>C
NM_001177875.1:c.40-13T>C NP_001171346.1:n.40-13T>C
NR_130776.1:n.354+49678A>G
NM_000439.5:c.181-13T>C MANE Select NP_000430.3:n.181-13T>C
NM_001177875.2:c.40-13T>C NP_001171346.1:n.40-13T>C
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