Canonical Allele Identifier: CA376960147

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70600830T>C , CM000672.2:g.70600830T>C GRCh38
NC_000010.10:g.72360586T>C , CM000672.1:g.72360586T>C GRCh37
NC_000010.9:g.72030592T>C NCBI36
NG_009615.1:g.6946A>G , LRG_94:g.6946A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.*17+1746T>C (PALD1) ENSP00000513342.1:n.*17+1746T>C
ENST00000697572.1:c.2250+36311T>C (PALD1) ENSP00000513343.1:n.2250+36311T>C
ENST00000697573.1:c.*17+1746T>C (PALD1) ENSP00000513344.1:n.*17+1746T>C
ENST00000697577.1:n.2919+1746T>C (PALD1)
ENST00000697578.1:n.2763+1746T>C (PALD1)
ENST00000441259.2:c.73A>G (PRF1) MANE Select ENSP00000398568.1:p.Thr25Ala
ENST00000638674.1:c.73A>G (PRF1) ENSP00000492048.1:p.Thr25Ala
ENST00000639390.1:n.97+1815A>G (PRF1)
ENST00000373209.2:c.73A>G (PRF1) ENSP00000362305.1:p.Thr25Ala
ENST00000441259.1:c.73A>G (PRF1) ENSP00000398568.1:p.Thr25Ala
NM_001083116.1:c.73A>G , LRG_94t1:c.73A>G (PRF1) NP_001076585.1:p.Thr25Ala
NM_005041.4:c.73A>G (PRF1) NP_005032.2:p.Thr25Ala
NM_001083116.2:c.73A>G (PRF1) NP_001076585.1:p.Thr25Ala
NM_005041.5:c.73A>G (PRF1) NP_005032.2:p.Thr25Ala
NM_001083116.3:c.73A>G (PRF1) MANE Select NP_001076585.1:p.Thr25Ala
NM_005041.6:c.73A>G (PRF1) NP_005032.2:p.Thr25Ala