Canonical Allele Identifier: CA376958359

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598909C>A , CM000672.2:g.70598909C>A GRCh38
NC_000010.10:g.72358665C>A , CM000672.1:g.72358665C>A GRCh37
NC_000010.9:g.72028671C>A NCBI36
NG_009615.1:g.8867G>T , LRG_94:g.8867G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2440C>A (PALD1) ENSP00000513342.1:p.Leu814Met
ENST00000697572.1:c.2250+34390C>A (PALD1) ENSP00000513343.1:n.2250+34390C>A
ENST00000697573.1:c.2284C>A (PALD1) ENSP00000513344.1:p.Leu762Met
ENST00000697577.1:n.2744C>A (PALD1)
ENST00000697578.1:n.2588C>A (PALD1)
ENST00000441259.2:c.812G>T (PRF1) MANE Select ENSP00000398568.1:p.Ser271Ile
ENST00000638674.1:c.540-1068G>T (PRF1) ENSP00000492048.1:n.540-1068G>T
ENST00000639390.1:n.98-1068G>T (PRF1)
ENST00000373209.2:c.812G>T (PRF1) ENSP00000362305.1:p.Ser271Ile
ENST00000441259.1:c.812G>T (PRF1) ENSP00000398568.1:p.Ser271Ile
NM_001083116.1:c.812G>T , LRG_94t1:c.812G>T (PRF1) NP_001076585.1:p.Ser271Ile
NM_005041.4:c.812G>T (PRF1) NP_005032.2:p.Ser271Ile
NM_001083116.2:c.812G>T (PRF1) NP_001076585.1:p.Ser271Ile
NM_005041.5:c.812G>T (PRF1) NP_005032.2:p.Ser271Ile
NM_001083116.3:c.812G>T (PRF1) MANE Select NP_001076585.1:p.Ser271Ile
NM_005041.6:c.812G>T (PRF1) NP_005032.2:p.Ser271Ile