Canonical Allele Identifier: CA1164252097

Gene: PPT1

Linked Data

• dbSNP Id: rs1649592482

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092042_40092043dup , CM000663.2:g.40092042_40092043dup	GRCh38
NC_000001.10:g.40557714_40557715dup , CM000663.1:g.40557714_40557715dup	GRCh37
NC_000001.9:g.40330301_40330302dup	NCBI36
NG_009192.1:g.10428_10429dup , LRG_690:g.10428_10429dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*198+2_*198+3dup	ENSP00000361865.5:n.*198+2_*198+3dup
ENST00000433473.8:c.359+2_359+3dup	ENSP00000394863.4:n.359+2_359+3dup
ENST00000439754.6:c.362+2_362+3dup	ENSP00000403207.2:n.362+2_362+3dup
ENST00000449045.7:c.125-2531_125-2530dup	ENSP00000392293.2:n.125-2531_125-2530dup
ENST00000526547.2:c.642+2_642+3dup
ENST00000527311.7:c.234+355_234+356dup	ENSP00000436695.3:n.234+355_234+356dup
ENST00000530704.6:c.362+2_362+3dup	ENSP00000431655.1:n.362+2_362+3dup
ENST00000641083.1:c.340+2_340+3dup
ENST00000641236.1:n.599+2_599+3dup
ENST00000641319.1:c.362+2_362+3dup	ENSP00000493128.1:n.362+2_362+3dup
ENST00000641471.1:c.449+2_449+3dup	ENSP00000493146.1:n.449+2_449+3dup
ENST00000641548.1:c.*214+2_*214+3dup	ENSP00000492984.1:n.*214+2_*214+3dup
ENST00000641691.1:c.*214+2_*214+3dup	ENSP00000492910.1:n.*214+2_*214+3dup
ENST00000641924.1:c.124+5072_124+5073dup	ENSP00000493063.1:n.124+5072_124+5073dup
ENST00000642050.2:c.362+2_362+3dup MANE Select	ENSP00000493153.1:n.362+2_362+3dup
ENST00000372779.8:c.449+2_449+3dup	ENSP00000361865.4:n.449+2_449+3dup
ENST00000433473.7:c.362+2_362+3dup	ENSP00000394863.3:n.362+2_362+3dup
ENST00000439754.5:c.47+2_47+3dup	ENSP00000403207.1:n.47+2_47+3dup
ENST00000449045.6:c.125-2531_125-2530dup	ENSP00000392293.2:n.125-2531_125-2530dup
ENST00000526547.1:c.212+2_212+3dup	ENSP00000436481.1:n.212+2_212+3dup
ENST00000527311.6:c.137+2_137+3dup	ENSP00000436695.2:n.137+2_137+3dup
ENST00000529905.5:c.362+2_362+3dup	ENSP00000432053.1:n.362+2_362+3dup
ENST00000530704.5:c.362+2_362+3dup	ENSP00000431655.1:n.362+2_362+3dup
NM_000310.3:c.362+2_362+3dup , LRG_690t1:c.362+2_362+3dup	NP_000301.1:n.362+2_362+3dup
NM_001142604.1:c.125-2531_125-2530dup	NP_001136076.1:n.125-2531_125-2530dup
XM_005271008.1:c.362+2_362+3dup	XP_005271065.1:n.362+2_362+3dup
NM_001363695.1:c.362+2_362+3dup	NP_001350624.1:n.362+2_362+3dup
NM_000310.4:c.362+2_362+3dup MANE Select	NP_000301.1:n.362+2_362+3dup
NM_001142604.2:c.125-2531_125-2530dup	NP_001136076.1:n.125-2531_125-2530dup
NM_001363695.2:c.362+2_362+3dup	NP_001350624.1:n.362+2_362+3dup