Canonical Allele Identifier: CA3350553
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs148354360
ExAC: 5:95764968 C / A
gnomAD v2: 5-95764968-C-A
gnomAD v3: 5-96429264-C-A
gnomAD v4: 5-96429264-C-A
MyVariant Identifiers: chr5:g.95764968C>A (hg19) chr5:g.95764968_95764971delinsACTT (hg19) chr5:g.96429264C>A (hg38) chr5:g.96429264_96429267delinsACTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429264C>A , CM000667.2:g.96429264C>A GRCh38
NC_000005.9:g.95764968C>A , CM000667.1:g.95764968C>A GRCh37
NC_000005.8:g.95790724C>A NCBI36
NG_021161.1:g.9018G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.234G>T MANE Select ENSP00000308024.2:p.Arg78Ser
ENST00000311106.7:c.234G>T ENSP00000308024.2:p.Arg78Ser
ENST00000508626.5:c.93G>T ENSP00000421600.1:p.Arg31Ser
ENST00000509190.1:c.234G>T ENSP00000427294.1:p.Arg78Ser
NM_000439.4:c.234G>T NP_000430.3:p.Arg78Ser
NM_001177875.1:c.93G>T NP_001171346.1:p.Arg31Ser
NR_130776.1:n.354+49612C>A
NM_000439.5:c.234G>T MANE Select NP_000430.3:p.Arg78Ser
NM_001177875.2:c.93G>T NP_001171346.1:p.Arg31Ser
Search 100 bp 5'
Search 100 bp 3'