Canonical Allele Identifier: CA360485148

Gene: PCSK1

Linked Data

• gnomAD v4: 5-96429236-T-G
• MyVariant Identifiers: chr5:g.95764940T>G (hg19) ; chr5:g.96429236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429236T>G , CM000667.2:g.96429236T>G	GRCh38
NC_000005.9:g.95764940T>G , CM000667.1:g.95764940T>G	GRCh37
NC_000005.8:g.95790696T>G	NCBI36
NG_021161.1:g.9046A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.262A>C MANE Select	ENSP00000308024.2:p.Lys88Gln
ENST00000311106.7:c.262A>C	ENSP00000308024.2:p.Lys88Gln
ENST00000508626.5:c.121A>C	ENSP00000421600.1:p.Lys41Gln
ENST00000509190.1:c.262A>C	ENSP00000427294.1:p.Lys88Gln
NM_000439.4:c.262A>C	NP_000430.3:p.Lys88Gln
NM_001177875.1:c.121A>C	NP_001171346.1:p.Lys41Gln
NR_130776.1:n.354+49584T>G
NM_000439.5:c.262A>C MANE Select	NP_000430.3:p.Lys88Gln
NM_001177875.2:c.121A>C	NP_001171346.1:p.Lys41Gln