Canonical Allele Identifier: CA360485063
Gene: PCSK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.95764916C>G (hg19) chr5:g.96429212C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429212C>G , CM000667.2:g.96429212C>G GRCh38
NC_000005.9:g.95764916C>G , CM000667.1:g.95764916C>G GRCh37
NC_000005.8:g.95790672C>G NCBI36
NG_021161.1:g.9070G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.285+1G>C MANE Select ENSP00000308024.2:n.285+1G>C
ENST00000311106.7:c.285+1G>C ENSP00000308024.2:n.285+1G>C
ENST00000508626.5:c.144+1G>C ENSP00000421600.1:n.144+1G>C
ENST00000509190.1:c.285+1G>C ENSP00000427294.1:n.285+1G>C
NM_000439.4:c.285+1G>C NP_000430.3:n.285+1G>C
NM_001177875.1:c.144+1G>C NP_001171346.1:n.144+1G>C
NR_130776.1:n.354+49560C>G
NM_000439.5:c.285+1G>C MANE Select NP_000430.3:n.285+1G>C
NM_001177875.2:c.144+1G>C NP_001171346.1:n.144+1G>C
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