Canonical Allele Identifier: CA1000853978

Gene: PPT1

Linked Data

• dbSNP Id: rs1648421318
• gnomAD v3: 1-40073987-A-G
• gnomAD v4: 1-40073987-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40073987A>G , CM000663.2:g.40073987A>G	GRCh38
NC_000001.10:g.40539659A>G , CM000663.1:g.40539659A>G	GRCh37
NC_000001.9:g.40312246A>G	NCBI36
NG_009192.1:g.28484T>C , LRG_690:g.28484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*74T>C	ENSP00000394863.4:n.*74T>C
ENST00000439754.6:c.*74T>C	ENSP00000403207.2:n.*74T>C
ENST00000449045.7:c.*74T>C	ENSP00000392293.2:n.*74T>C
ENST00000530076.6:c.*74T>C	ENSP00000434007.1:n.*74T>C
ENST00000530704.6:c.*618T>C	ENSP00000431655.1:n.*618T>C
ENST00000641083.1:c.1085T>C
ENST00000641236.1:n.1232T>C
ENST00000641319.1:c.*205T>C	ENSP00000493128.1:n.*205T>C
ENST00000641381.1:c.417T>C
ENST00000641471.1:c.*74T>C	ENSP00000493146.1:n.*74T>C
ENST00000641691.1:c.*847T>C	ENSP00000492910.1:n.*847T>C
ENST00000642050.2:c.*74T>C MANE Select	ENSP00000493153.1:n.*74T>C
ENST00000372775.2:n.392T>C
ENST00000433473.7:c.*74T>C	ENSP00000394863.3:n.*74T>C
ENST00000439754.5:c.608T>C	ENSP00000403207.1:n.608T>C
ENST00000449045.6:c.*74T>C	ENSP00000392293.2:n.*74T>C
ENST00000529905.5:c.*74T>C	ENSP00000432053.1:n.*74T>C
ENST00000530704.5:c.*618T>C	ENSP00000431655.1:n.*618T>C
NM_000310.3:c.*74T>C , LRG_690t1:c.*74T>C	NP_000301.1:n.*74T>C
NM_001142604.1:c.*74T>C	NP_001136076.1:n.*74T>C
XM_005271008.1:c.*74T>C	XP_005271065.1:n.*74T>C
NM_001363695.1:c.*74T>C	NP_001350624.1:n.*74T>C
NM_000310.4:c.*74T>C MANE Select	NP_000301.1:n.*74T>C
NM_001142604.2:c.*74T>C	NP_001136076.1:n.*74T>C
NM_001363695.2:c.*74T>C	NP_001350624.1:n.*74T>C