Canonical Allele Identifier: CA561285004

Gene: PCSK1

Linked Data

• dbSNP Id: rs1336489764
• gnomAD v2: 5-95764882-G-C
• gnomAD v4: 5-96429178-G-C
• MyVariant Identifiers: chr5:g.95764882G>C (hg19) ; chr5:g.96429178G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429178G>C , CM000667.2:g.96429178G>C	GRCh38
NC_000005.9:g.95764882G>C , CM000667.1:g.95764882G>C	GRCh37
NC_000005.8:g.95790638G>C	NCBI36
NG_021161.1:g.9104C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+35C>G MANE Select	ENSP00000308024.2:n.285+35C>G
ENST00000311106.7:c.285+35C>G	ENSP00000308024.2:n.285+35C>G
ENST00000508626.5:c.144+35C>G	ENSP00000421600.1:n.144+35C>G
ENST00000509190.1:c.285+35C>G	ENSP00000427294.1:n.285+35C>G
NM_000439.4:c.285+35C>G	NP_000430.3:n.285+35C>G
NM_001177875.1:c.144+35C>G	NP_001171346.1:n.144+35C>G
NR_130776.1:n.354+49526G>C
NM_000439.5:c.285+35C>G MANE Select	NP_000430.3:n.285+35C>G
NM_001177875.2:c.144+35C>G	NP_001171346.1:n.144+35C>G