Canonical Allele Identifier: CA445498906

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429309-T-C
• MyVariant Identifiers: chr5:g.95765013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429309T>C , CM000667.2:g.96429309T>C	GRCh38
NC_000005.9:g.95765013T>C , CM000667.1:g.95765013T>C	GRCh37
NC_000005.8:g.95790769T>C	NCBI36
NG_021161.1:g.8973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.189A>G MANE Select	ENSP00000308024.2:p.Ser63=
ENST00000311106.7:c.189A>G	ENSP00000308024.2:p.Ser63=
ENST00000508626.5:c.48A>G	ENSP00000421600.1:p.Ser16=
ENST00000509190.1:c.189A>G	ENSP00000427294.1:p.Ser63=
NM_000439.4:c.189A>G	NP_000430.3:p.Ser63=
NM_001177875.1:c.48A>G	NP_001171346.1:p.Ser16=
NR_130776.1:n.354+49657T>C
NM_000439.5:c.189A>G MANE Select	NP_000430.3:p.Ser63=
NM_001177875.2:c.48A>G	NP_001171346.1:p.Ser16=