Canonical Allele Identifier: CA360477254
Gene: PCSK1 HGNC NCBI

Linked Data

dbSNP Id: rs193015519
gnomAD v2: 5-95729048-G-T
gnomAD v3: 5-96393344-G-T
gnomAD v4: 5-96393344-G-T
MyVariant Identifiers: chr5:g.95729048G>T (hg19) chr5:g.96393344G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393344G>T , CM000667.2:g.96393344G>T GRCh38
NC_000005.9:g.95729048G>T , CM000667.1:g.95729048G>T GRCh37
NC_000005.8:g.95754804G>T NCBI36
NG_021161.1:g.44938C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1919C>A MANE Select ENSP00000308024.2:p.Thr640Asn
ENST00000311106.7:c.1919C>A ENSP00000308024.2:p.Thr640Asn
ENST00000508626.5:c.1778C>A ENSP00000421600.1:p.Thr593Asn
ENST00000513085.1:n.1062C>A
NM_000439.4:c.1919C>A NP_000430.3:p.Thr640Asn
NM_001177875.1:c.1778C>A NP_001171346.1:p.Thr593Asn
NR_130776.1:n.354+13692G>T
NM_000439.5:c.1919C>A MANE Select NP_000430.3:p.Thr640Asn
NM_001177875.2:c.1778C>A NP_001171346.1:p.Thr593Asn
Search 100 bp 5'
Search 100 bp 3'