Canonical Allele Identifier: CA631007864

Gene: PTBP1

Linked Data

• dbSNP Id: rs1378428627
• gnomAD v2: 19-801408-G-C
• gnomAD v3: 19-801408-G-C
• gnomAD v4: 19-801408-G-C
• MyVariant Identifiers: chr19:g.801408G>C (hg19) ; chr19:g.801408G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.801408G>C , CM000681.2:g.801408G>C	GRCh38
NC_000019.9:g.801408G>C , CM000681.1:g.801408G>C	GRCh37
NC_000019.8:g.752408G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356948.11:c.39+1965G>C MANE Select	ENSP00000349428.4:n.39+1965G>C
ENST00000592804.2:n.139+1965G>C
ENST00000676227.1:c.39+1965G>C	ENSP00000501551.1:n.39+1965G>C
ENST00000677277.1:c.39+1965G>C	ENSP00000504032.1:n.39+1965G>C
ENST00000679114.1:c.45+1965G>C	ENSP00000504829.1:n.45+1965G>C
ENST00000349038.8:c.39+1965G>C	ENSP00000014112.5:n.39+1965G>C
ENST00000350092.8:c.-52+1965G>C	ENSP00000342332.5:n.-52+1965G>C
ENST00000356948.10:c.39+1965G>C	ENSP00000349428.4:n.39+1965G>C
ENST00000394601.8:c.39+1965G>C	ENSP00000408096.1:n.39+1965G>C
ENST00000586481.5:c.-51-2153G>C	ENSP00000468565.3:n.-51-2153G>C
ENST00000586944.5:n.109+1965G>C
ENST00000587094.2:c.45+1965G>C	ENSP00000465825.1:n.45+1965G>C
ENST00000587191.3:c.-66+1965G>C	ENSP00000478974.1:n.-66+1965G>C
ENST00000589575.5:c.39+1965G>C	ENSP00000465652.2:n.39+1965G>C
ENST00000590887.5:n.112+1965G>C
ENST00000627714.2:c.39+1965G>C	ENSP00000486218.1:n.39+1965G>C
ENST00000635647.1:c.39+1965G>C	ENSP00000489604.1:n.39+1965G>C
NM_002819.4:c.39+1965G>C	NP_002810.1:n.39+1965G>C
NM_031990.3:c.39+1965G>C	NP_114367.1:n.39+1965G>C
NM_031991.3:c.39+1965G>C	NP_114368.1:n.39+1965G>C
XM_005259597.2:c.45+1965G>C	XP_005259654.1:n.45+1965G>C
XM_005259598.2:c.45+1965G>C	XP_005259655.1:n.45+1965G>C
XR_244034.2:n.648+1965G>C
XR_244035.2:n.648+1965G>C
NM_002819.5:c.39+1965G>C MANE Select	NP_002810.1:n.39+1965G>C
NM_031990.4:c.39+1965G>C	NP_114367.1:n.39+1965G>C
NM_031991.4:c.39+1965G>C	NP_114368.1:n.39+1965G>C