Canonical Allele Identifier: CA339845745

Gene: PPT1

Linked Data

• dbSNP Id: rs1429849193
• gnomAD v2: 1-40539834-T-C
• gnomAD v4: 1-40074162-T-C
• MyVariant Identifiers: chr1:g.40539834T>C (hg19) ; chr1:g.40074162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074162T>C , CM000663.2:g.40074162T>C	GRCh38
NC_000001.10:g.40539834T>C , CM000663.1:g.40539834T>C	GRCh37
NC_000001.9:g.40312421T>C	NCBI36
NG_009192.1:g.28309A>G , LRG_690:g.28309A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.817A>G	ENSP00000394863.4:p.Met273Val
ENST00000439754.6:c.748A>G	ENSP00000403207.2:p.Met250Val
ENST00000449045.7:c.511A>G	ENSP00000392293.2:p.Met171Val
ENST00000527311.7:c.589A>G	ENSP00000436695.3:p.Met197Val
ENST00000530076.6:c.163A>G	ENSP00000434007.1:p.Met55Val
ENST00000530704.6:c.*443A>G	ENSP00000431655.1:n.*443A>G
ENST00000641083.1:c.910A>G
ENST00000641236.1:n.1057A>G
ENST00000641319.1:c.*30A>G	ENSP00000493128.1:n.*30A>G
ENST00000641381.1:c.242A>G
ENST00000641471.1:c.907A>G	ENSP00000493146.1:p.Met303Val
ENST00000641691.1:c.*672A>G	ENSP00000492910.1:n.*672A>G
ENST00000641924.1:c.*249A>G	ENSP00000493063.1:n.*249A>G
ENST00000642050.2:c.820A>G MANE Select	ENSP00000493153.1:p.Met274Val
ENST00000372775.2:n.217A>G
ENST00000433473.7:c.820A>G	ENSP00000394863.3:p.Met274Val
ENST00000439754.5:c.433A>G	ENSP00000403207.1:p.Met145Val
ENST00000449045.6:c.511A>G	ENSP00000392293.2:p.Met171Val
ENST00000527311.6:c.595A>G	ENSP00000436695.2:p.Met199Val
ENST00000529905.5:c.820A>G	ENSP00000432053.1:p.Met274Val
ENST00000530076.5:c.163A>G	ENSP00000434007.1:p.Met55Val
ENST00000530704.5:c.*443A>G	ENSP00000431655.1:n.*443A>G
NM_000310.3:c.820A>G , LRG_690t1:c.820A>G	NP_000301.1:p.Met274Val
NM_001142604.1:c.511A>G	NP_001136076.1:p.Met171Val
XM_005271008.1:c.748A>G	XP_005271065.1:p.Met250Val
NM_001363695.1:c.748A>G	NP_001350624.1:p.Met250Val
NM_000310.4:c.820A>G MANE Select	NP_000301.1:p.Met274Val
NM_001142604.2:c.511A>G	NP_001136076.1:p.Met171Val
NM_001363695.2:c.748A>G	NP_001350624.1:p.Met250Val