Canonical Allele Identifier: CA815895001

Gene: PCSK1

Linked Data

• dbSNP Id: rs1322115538
• gnomAD v3: 5-96429119-A-C
• gnomAD v4: 5-96429119-A-C
• MyVariant Identifiers: chr5:g.95764823A>C (hg19) ; chr5:g.96429119A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429119A>C , CM000667.2:g.96429119A>C	GRCh38
NC_000005.9:g.95764823A>C , CM000667.1:g.95764823A>C	GRCh37
NC_000005.8:g.95790579A>C	NCBI36
NG_021161.1:g.9163T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+94T>G MANE Select	ENSP00000308024.2:n.285+94T>G
ENST00000311106.7:c.285+94T>G	ENSP00000308024.2:n.285+94T>G
ENST00000508626.5:c.144+94T>G	ENSP00000421600.1:n.144+94T>G
ENST00000509190.1:c.285+94T>G	ENSP00000427294.1:n.285+94T>G
NM_000439.4:c.285+94T>G	NP_000430.3:n.285+94T>G
NM_001177875.1:c.144+94T>G	NP_001171346.1:n.144+94T>G
NR_130776.1:n.354+49467A>C
NM_000439.5:c.285+94T>G MANE Select	NP_000430.3:n.285+94T>G
NM_001177875.2:c.144+94T>G	NP_001171346.1:n.144+94T>G