Canonical Allele Identifier: CA303955543
Gene: PTBP1 HGNC NCBI

Linked Data

dbSNP Id: rs11085226
gnomAD v2: 19-799770-A-G
gnomAD v3: 19-799770-A-G
gnomAD v4: 19-799770-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.799770A>G , CM000681.2:g.799770A>G GRCh38
NC_000019.9:g.799770A>G , CM000681.1:g.799770A>G GRCh37
NC_000019.8:g.750770A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356948.11:c.39+327A>G MANE Select ENSP00000349428.4:n.39+327A>G
ENST00000592804.2:n.139+327A>G
ENST00000676227.1:c.39+327A>G ENSP00000501551.1:n.39+327A>G
ENST00000677277.1:c.39+327A>G ENSP00000504032.1:n.39+327A>G
ENST00000677717.1:n.412A>G
ENST00000679114.1:c.45+327A>G ENSP00000504829.1:n.45+327A>G
ENST00000349038.8:c.39+327A>G ENSP00000014112.5:n.39+327A>G
ENST00000350092.8:c.-52+327A>G ENSP00000342332.5:n.-52+327A>G
ENST00000356948.10:c.39+327A>G ENSP00000349428.4:n.39+327A>G
ENST00000394601.8:c.39+327A>G ENSP00000408096.1:n.39+327A>G
ENST00000586481.5:c.-52+2265A>G ENSP00000468565.3:n.-52+2265A>G
ENST00000586944.5:n.109+327A>G
ENST00000587094.2:c.45+327A>G ENSP00000465825.1:n.45+327A>G
ENST00000587191.3:c.-66+327A>G ENSP00000478974.1:n.-66+327A>G
ENST00000589575.5:c.39+327A>G ENSP00000465652.2:n.39+327A>G
ENST00000590887.5:n.112+327A>G
ENST00000627714.2:c.39+327A>G ENSP00000486218.1:n.39+327A>G
ENST00000635647.1:c.39+327A>G ENSP00000489604.1:n.39+327A>G
NM_002819.4:c.39+327A>G NP_002810.1:n.39+327A>G
NM_031990.3:c.39+327A>G NP_114367.1:n.39+327A>G
NM_031991.3:c.39+327A>G NP_114368.1:n.39+327A>G
XM_005259597.2:c.45+327A>G XP_005259654.1:n.45+327A>G
XM_005259598.2:c.45+327A>G XP_005259655.1:n.45+327A>G
XR_244034.2:n.648+327A>G
XR_244035.2:n.648+327A>G
NM_002819.5:c.39+327A>G MANE Select NP_002810.1:n.39+327A>G
NM_031990.4:c.39+327A>G NP_114367.1:n.39+327A>G
NM_031991.4:c.39+327A>G NP_114368.1:n.39+327A>G