Canonical Allele Identifier: CA360482951

Gene: PCSK1

Linked Data

• MyVariant Identifiers: chr5:g.95751743C>G (hg19) ; chr5:g.96416039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416039C>G , CM000667.2:g.96416039C>G	GRCh38
NC_000005.9:g.95751743C>G , CM000667.1:g.95751743C>G	GRCh37
NC_000005.8:g.95777499C>G	NCBI36
NG_021161.1:g.22243G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.703G>C MANE Select	ENSP00000308024.2:p.Val235Leu
ENST00000311106.7:c.703G>C	ENSP00000308024.2:p.Val235Leu
ENST00000508626.5:c.562G>C	ENSP00000421600.1:p.Val188Leu
NM_000439.4:c.703G>C	NP_000430.3:p.Val235Leu
NM_001177875.1:c.562G>C	NP_001171346.1:p.Val188Leu
NR_130776.1:n.354+36387C>G
NM_000439.5:c.703G>C MANE Select	NP_000430.3:p.Val235Leu
NM_001177875.2:c.562G>C	NP_001171346.1:p.Val188Leu