Canonical Allele Identifier: CA2645092824

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092346-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092346G>A , CM000663.2:g.40092346G>A	GRCh38
NC_000001.10:g.40558018G>A , CM000663.1:g.40558018G>A	GRCh37
NC_000001.9:g.40330605G>A	NCBI36
NG_009192.1:g.10125C>T , LRG_690:g.10125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*70+52C>T	ENSP00000361865.5:n.*70+52C>T
ENST00000433473.8:c.231+52C>T	ENSP00000394863.4:n.231+52C>T
ENST00000439754.6:c.234+52C>T	ENSP00000403207.2:n.234+52C>T
ENST00000449045.7:c.125-2834C>T	ENSP00000392293.2:n.125-2834C>T
ENST00000526547.2:c.514+52C>T
ENST00000527311.7:c.234+52C>T	ENSP00000436695.3:n.234+52C>T
ENST00000530704.6:c.234+52C>T	ENSP00000431655.1:n.234+52C>T
ENST00000641083.1:c.212+52C>T
ENST00000641236.1:n.298C>T
ENST00000641319.1:c.234+52C>T	ENSP00000493128.1:n.234+52C>T
ENST00000641471.1:c.321+52C>T	ENSP00000493146.1:n.321+52C>T
ENST00000641548.1:c.*86+52C>T	ENSP00000492984.1:n.*86+52C>T
ENST00000641691.1:c.*86+52C>T	ENSP00000492910.1:n.*86+52C>T
ENST00000641924.1:c.124+4769C>T	ENSP00000493063.1:n.124+4769C>T
ENST00000642050.2:c.234+52C>T MANE Select	ENSP00000493153.1:n.234+52C>T
ENST00000372779.8:c.321+52C>T	ENSP00000361865.4:n.321+52C>T
ENST00000433473.7:c.234+52C>T	ENSP00000394863.3:n.234+52C>T
ENST00000449045.6:c.125-2834C>T	ENSP00000392293.2:n.125-2834C>T
ENST00000526547.1:c.84+52C>T	ENSP00000436481.1:n.84+52C>T
ENST00000527311.6:c.125-289C>T	ENSP00000436695.2:n.125-289C>T
ENST00000529905.5:c.234+52C>T	ENSP00000432053.1:n.234+52C>T
ENST00000530704.5:c.234+52C>T	ENSP00000431655.1:n.234+52C>T
NM_000310.3:c.234+52C>T , LRG_690t1:c.234+52C>T	NP_000301.1:n.234+52C>T
NM_001142604.1:c.125-2834C>T	NP_001136076.1:n.125-2834C>T
XM_005271008.1:c.234+52C>T	XP_005271065.1:n.234+52C>T
NM_001363695.1:c.234+52C>T	NP_001350624.1:n.234+52C>T
NM_000310.4:c.234+52C>T MANE Select	NP_000301.1:n.234+52C>T
NM_001142604.2:c.125-2834C>T	NP_001136076.1:n.125-2834C>T
NM_001363695.2:c.234+52C>T	NP_001350624.1:n.234+52C>T