Canonical Allele Identifier: CA815894957

Gene: PCSK1

Linked Data

• dbSNP Id: rs1469638972
• gnomAD v3: 5-96429048-T-A
• gnomAD v4: 5-96429048-T-A
• MyVariant Identifiers: chr5:g.95764752T>A (hg19) ; chr5:g.96429048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429048T>A , CM000667.2:g.96429048T>A	GRCh38
NC_000005.9:g.95764752T>A , CM000667.1:g.95764752T>A	GRCh37
NC_000005.8:g.95790508T>A	NCBI36
NG_021161.1:g.9234A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.285+165A>T MANE Select	ENSP00000308024.2:n.285+165A>T
ENST00000311106.7:c.285+165A>T	ENSP00000308024.2:n.285+165A>T
ENST00000508626.5:c.144+165A>T	ENSP00000421600.1:n.144+165A>T
ENST00000509190.1:c.285+165A>T	ENSP00000427294.1:n.285+165A>T
NM_000439.4:c.285+165A>T	NP_000430.3:n.285+165A>T
NM_001177875.1:c.144+165A>T	NP_001171346.1:n.144+165A>T
NR_130776.1:n.354+49396T>A
NM_000439.5:c.285+165A>T MANE Select	NP_000430.3:n.285+165A>T
NM_001177875.2:c.144+165A>T	NP_001171346.1:n.144+165A>T