Canonical Allele Identifier: CA44539208
Gene: GPN1 HGNC NCBI

Linked Data

dbSNP Id: rs111571364
gnomAD v2: 2-27859317-G-T
gnomAD v3: 2-27636450-G-T
gnomAD v4: 2-27636450-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27636450G>T , CM000664.2:g.27636450G>T GRCh38
NC_000002.11:g.27859317G>T , CM000664.1:g.27859317G>T GRCh37
NC_000002.10:g.27712821G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000610189.2:c.524+1216G>T MANE Select ENSP00000476446.1:n.524+1216G>T
ENST00000264718.7:c.566+1216G>T ENSP00000264718.3:n.566+1216G>T
ENST00000407583.7:c.488+1216G>T ENSP00000384255.3:n.488+1216G>T
ENST00000424214.5:c.287+1216G>T ENSP00000398115.1:n.287+1216G>T
ENST00000436280.5:c.*195+1216G>T ENSP00000395981.1:n.*195+1216G>T
ENST00000458167.6:c.239+1216G>T ENSP00000412170.2:n.239+1216G>T
ENST00000461249.1:n.503+1216G>T
ENST00000503738.5:c.239+1216G>T ENSP00000427269.1:n.239+1216G>T
ENST00000515877.5:c.287+1216G>T ENSP00000424678.1:n.287+1216G>T
ENST00000610189.1:c.524+1216G>T ENSP00000476446.1:n.524+1216G>T
ENST00000616939.4:c.566+1216G>T ENSP00000484680.1:n.566+1216G>T
NM_001145047.1:c.488+1216G>T NP_001138519.1:n.488+1216G>T
NM_001145048.1:c.287+1216G>T NP_001138520.1:n.287+1216G>T
NM_001145049.1:c.239+1216G>T NP_001138521.1:n.239+1216G>T
NM_007266.3:c.566+1216G>T NP_009197.2:n.566+1216G>T
NR_026735.1:n.480+1216G>T
NM_007266.4:c.524+1216G>T MANE Select NP_009197.3:n.524+1216G>T
NM_001145047.2:c.488+1216G>T NP_001138519.1:n.488+1216G>T
NM_001145048.2:c.287+1216G>T NP_001138520.1:n.287+1216G>T
NM_001145049.2:c.239+1216G>T NP_001138521.1:n.239+1216G>T
NR_026735.2:n.426+1216G>T