Canonical Allele Identifier: CA360485324
Gene: PCSK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429296A>C , CM000667.2:g.96429296A>C GRCh38
NC_000005.9:g.95765000A>C , CM000667.1:g.95765000A>C GRCh37
NC_000005.8:g.95790756A>C NCBI36
NG_021161.1:g.8986T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.202T>G MANE Select ENSP00000308024.2:p.Tyr68Asp
ENST00000311106.7:c.202T>G ENSP00000308024.2:p.Tyr68Asp
ENST00000508626.5:c.61T>G ENSP00000421600.1:p.Tyr21Asp
ENST00000509190.1:c.202T>G ENSP00000427294.1:p.Tyr68Asp
NM_000439.4:c.202T>G NP_000430.3:p.Tyr68Asp
NM_001177875.1:c.61T>G NP_001171346.1:p.Tyr21Asp
NR_130776.1:n.354+49644A>C
NM_000439.5:c.202T>G MANE Select NP_000430.3:p.Tyr68Asp
NM_001177875.2:c.61T>G NP_001171346.1:p.Tyr21Asp