Canonical Allele Identifier: CA339845290

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074062-C-G
• MyVariant Identifiers: chr1:g.40539734C>G (hg19) ; chr1:g.40074062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074062C>G , CM000663.2:g.40074062C>G	GRCh38
NC_000001.10:g.40539734C>G , CM000663.1:g.40539734C>G	GRCh37
NC_000001.9:g.40312321C>G	NCBI36
NG_009192.1:g.28409G>C , LRG_690:g.28409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.917G>C	ENSP00000394863.4:p.Ter306Ser
ENST00000439754.6:c.848G>C	ENSP00000403207.2:p.Ter283Ser
ENST00000449045.7:c.611G>C	ENSP00000392293.2:p.Ter204Ser
ENST00000530076.6:c.263G>C	ENSP00000434007.1:p.Ter88Ser
ENST00000530704.6:c.*543G>C	ENSP00000431655.1:n.*543G>C
ENST00000641083.1:c.1010G>C
ENST00000641236.1:n.1157G>C
ENST00000641319.1:c.*130G>C	ENSP00000493128.1:n.*130G>C
ENST00000641381.1:c.342G>C
ENST00000641471.1:c.1007G>C	ENSP00000493146.1:p.Ter336Ser
ENST00000641691.1:c.*772G>C	ENSP00000492910.1:n.*772G>C
ENST00000641924.1:c.*349G>C	ENSP00000493063.1:n.*349G>C
ENST00000642050.2:c.920G>C MANE Select	ENSP00000493153.1:p.Ter307Ser
ENST00000372775.2:n.317G>C
ENST00000433473.7:c.920G>C	ENSP00000394863.3:p.Ter307Ser
ENST00000439754.5:c.533G>C	ENSP00000403207.1:p.Ter178Ser
ENST00000449045.6:c.611G>C	ENSP00000392293.2:p.Ter204Ser
ENST00000529905.5:c.920G>C	ENSP00000432053.1:p.Ter307Ser
ENST00000530076.5:c.263G>C	ENSP00000434007.1:p.Ter88Ser
ENST00000530704.5:c.*543G>C	ENSP00000431655.1:n.*543G>C
NM_000310.3:c.920G>C , LRG_690t1:c.920G>C	NP_000301.1:p.Ter307Ser
NM_001142604.1:c.611G>C	NP_001136076.1:p.Ter204Ser
XM_005271008.1:c.848G>C	XP_005271065.1:p.Ter283Ser
NM_001363695.1:c.848G>C	NP_001350624.1:p.Ter283Ser
NM_000310.4:c.920G>C MANE Select	NP_000301.1:p.Ter307Ser
NM_001142604.2:c.611G>C	NP_001136076.1:p.Ter204Ser
NM_001363695.2:c.848G>C	NP_001350624.1:p.Ter283Ser