Canonical Allele Identifier: CA376959019

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70599101G>C , CM000672.2:g.70599101G>C GRCh38
NC_000010.10:g.72358857G>C , CM000672.1:g.72358857G>C GRCh37
NC_000010.9:g.72028863G>C NCBI36
NG_009615.1:g.8675C>G , LRG_94:g.8675C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+17G>C (PALD1) ENSP00000513342.1:n.*17+17G>C
ENST00000697572.1:c.2250+34582G>C (PALD1) ENSP00000513343.1:n.2250+34582G>C
ENST00000697573.1:c.*17+17G>C (PALD1) ENSP00000513344.1:n.*17+17G>C
ENST00000697577.1:n.2919+17G>C (PALD1)
ENST00000697578.1:n.2763+17G>C (PALD1)
ENST00000441259.2:c.620C>G (PRF1) MANE Select ENSP00000398568.1:p.Ser207Cys
ENST00000638674.1:c.540-1260C>G (PRF1) ENSP00000492048.1:n.540-1260C>G
ENST00000639390.1:n.98-1260C>G (PRF1)
ENST00000373209.2:c.620C>G (PRF1) ENSP00000362305.1:p.Ser207Cys
ENST00000441259.1:c.620C>G (PRF1) ENSP00000398568.1:p.Ser207Cys
NM_001083116.1:c.620C>G , LRG_94t1:c.620C>G (PRF1) NP_001076585.1:p.Ser207Cys
NM_005041.4:c.620C>G (PRF1) NP_005032.2:p.Ser207Cys
NM_001083116.2:c.620C>G (PRF1) NP_001076585.1:p.Ser207Cys
NM_005041.5:c.620C>G (PRF1) NP_005032.2:p.Ser207Cys
NM_001083116.3:c.620C>G (PRF1) MANE Select NP_001076585.1:p.Ser207Cys
NM_005041.6:c.620C>G (PRF1) NP_005032.2:p.Ser207Cys