Canonical Allele Identifier: CA1918323272

Linked Data

dbSNP Id: rs1848224762

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70601151G>T , CM000672.2:g.70601151G>T GRCh38
NC_000010.10:g.72360907G>T , CM000672.1:g.72360907G>T GRCh37
NC_000010.9:g.72030913G>T NCBI36
NG_009615.1:g.6625C>A , LRG_94:g.6625C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+2067G>T (PALD1) ENSP00000513342.1:n.*17+2067G>T
ENST00000697572.1:c.2250+36632G>T (PALD1) ENSP00000513343.1:n.2250+36632G>T
ENST00000697573.1:c.*17+2067G>T (PALD1) ENSP00000513344.1:n.*17+2067G>T
ENST00000697577.1:n.2919+2067G>T (PALD1)
ENST00000697578.1:n.2763+2067G>T (PALD1)
ENST00000441259.2:c.-30-219C>A (PRF1) MANE Select ENSP00000398568.1:n.-30-219C>A
ENST00000638674.1:c.-4-245C>A (PRF1) ENSP00000492048.1:n.-4-245C>A
ENST00000639390.1:n.97+1494C>A (PRF1)
ENST00000373209.2:c.-4-245C>A (PRF1) ENSP00000362305.1:n.-4-245C>A
ENST00000441259.1:c.-30-219C>A (PRF1) ENSP00000398568.1:n.-30-219C>A
NM_001083116.1:c.-30-219C>A , LRG_94t1:c.-30-219C>A (PRF1) NP_001076585.1:n.-30-219C>A
NM_005041.4:c.-4-245C>A (PRF1) NP_005032.2:n.-4-245C>A
NM_001083116.2:c.-30-219C>A (PRF1) NP_001076585.1:n.-30-219C>A
NM_005041.5:c.-4-245C>A (PRF1) NP_005032.2:n.-4-245C>A
NM_001083116.3:c.-30-219C>A (PRF1) MANE Select NP_001076585.1:n.-30-219C>A
NM_005041.6:c.-4-245C>A (PRF1) NP_005032.2:n.-4-245C>A