Canonical Allele Identifier: CA2574453139

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074039-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074039T>G , CM000663.2:g.40074039T>G	GRCh38
NC_000001.10:g.40539711T>G , CM000663.1:g.40539711T>G	GRCh37
NC_000001.9:g.40312298T>G	NCBI36
NG_009192.1:g.28432A>C , LRG_690:g.28432A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*22A>C	ENSP00000394863.4:n.*22A>C
ENST00000439754.6:c.*22A>C	ENSP00000403207.2:n.*22A>C
ENST00000449045.7:c.*22A>C	ENSP00000392293.2:n.*22A>C
ENST00000530076.6:c.*22A>C	ENSP00000434007.1:n.*22A>C
ENST00000530704.6:c.*566A>C	ENSP00000431655.1:n.*566A>C
ENST00000641083.1:c.1033A>C
ENST00000641236.1:n.1180A>C
ENST00000641319.1:c.*153A>C	ENSP00000493128.1:n.*153A>C
ENST00000641381.1:c.365A>C
ENST00000641471.1:c.*22A>C	ENSP00000493146.1:n.*22A>C
ENST00000641691.1:c.*795A>C	ENSP00000492910.1:n.*795A>C
ENST00000641924.1:c.*372A>C	ENSP00000493063.1:n.*372A>C
ENST00000642050.2:c.*22A>C MANE Select	ENSP00000493153.1:n.*22A>C
ENST00000372775.2:n.340A>C
ENST00000433473.7:c.*22A>C	ENSP00000394863.3:n.*22A>C
ENST00000439754.5:c.556A>C	ENSP00000403207.1:n.556A>C
ENST00000449045.6:c.*22A>C	ENSP00000392293.2:n.*22A>C
ENST00000529905.5:c.*22A>C	ENSP00000432053.1:n.*22A>C
ENST00000530076.5:c.*22A>C	ENSP00000434007.1:n.*22A>C
ENST00000530704.5:c.*566A>C	ENSP00000431655.1:n.*566A>C
NM_000310.3:c.*22A>C , LRG_690t1:c.*22A>C	NP_000301.1:n.*22A>C
NM_001142604.1:c.*22A>C	NP_001136076.1:n.*22A>C
XM_005271008.1:c.*22A>C	XP_005271065.1:n.*22A>C
NM_001363695.1:c.*22A>C	NP_001350624.1:n.*22A>C
NM_000310.4:c.*22A>C MANE Select	NP_000301.1:n.*22A>C
NM_001142604.2:c.*22A>C	NP_001136076.1:n.*22A>C
NM_001363695.2:c.*22A>C	NP_001350624.1:n.*22A>C