Canonical Allele Identifier: CA2674667239
Gene: PCSK1 HGNC NCBI

Linked Data

gnomAD v4: 5-96429400-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429400G>T , CM000667.2:g.96429400G>T GRCh38
NC_000005.9:g.95765104G>T , CM000667.1:g.95765104G>T GRCh37
NC_000005.8:g.95790860G>T NCBI36
NG_021161.1:g.8882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.181-83C>A MANE Select ENSP00000308024.2:n.181-83C>A
ENST00000311106.7:c.181-83C>A ENSP00000308024.2:n.181-83C>A
ENST00000508626.5:c.40-83C>A ENSP00000421600.1:n.40-83C>A
ENST00000509190.1:c.181-83C>A ENSP00000427294.1:n.181-83C>A
NM_000439.4:c.181-83C>A NP_000430.3:n.181-83C>A
NM_001177875.1:c.40-83C>A NP_001171346.1:n.40-83C>A
NR_130776.1:n.354+49748G>T
NM_000439.5:c.181-83C>A MANE Select NP_000430.3:n.181-83C>A
NM_001177875.2:c.40-83C>A NP_001171346.1:n.40-83C>A
Search 100 bp 5'
Search 100 bp 3'