Canonical Allele Identifier: CA339845377

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539759C>G (hg19) ; chr1:g.40074087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074087C>G , CM000663.2:g.40074087C>G	GRCh38
NC_000001.10:g.40539759C>G , CM000663.1:g.40539759C>G	GRCh37
NC_000001.9:g.40312346C>G	NCBI36
NG_009192.1:g.28384G>C , LRG_690:g.28384G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.892G>C	ENSP00000394863.4:p.Ala298Pro
ENST00000439754.6:c.823G>C	ENSP00000403207.2:p.Ala275Pro
ENST00000449045.7:c.586G>C	ENSP00000392293.2:p.Ala196Pro
ENST00000530076.6:c.238G>C	ENSP00000434007.1:p.Ala80Pro
ENST00000530704.6:c.*518G>C	ENSP00000431655.1:n.*518G>C
ENST00000641083.1:c.985G>C
ENST00000641236.1:n.1132G>C
ENST00000641319.1:c.*105G>C	ENSP00000493128.1:n.*105G>C
ENST00000641381.1:c.317G>C
ENST00000641471.1:c.982G>C	ENSP00000493146.1:p.Ala328Pro
ENST00000641691.1:c.*747G>C	ENSP00000492910.1:n.*747G>C
ENST00000641924.1:c.*324G>C	ENSP00000493063.1:n.*324G>C
ENST00000642050.2:c.895G>C MANE Select	ENSP00000493153.1:p.Ala299Pro
ENST00000372775.2:n.292G>C
ENST00000433473.7:c.895G>C	ENSP00000394863.3:p.Ala299Pro
ENST00000439754.5:c.508G>C	ENSP00000403207.1:p.Ala170Pro
ENST00000449045.6:c.586G>C	ENSP00000392293.2:p.Ala196Pro
ENST00000529905.5:c.895G>C	ENSP00000432053.1:p.Ala299Pro
ENST00000530076.5:c.238G>C	ENSP00000434007.1:p.Ala80Pro
ENST00000530704.5:c.*518G>C	ENSP00000431655.1:n.*518G>C
NM_000310.3:c.895G>C , LRG_690t1:c.895G>C	NP_000301.1:p.Ala299Pro
NM_001142604.1:c.586G>C	NP_001136076.1:p.Ala196Pro
XM_005271008.1:c.823G>C	XP_005271065.1:p.Ala275Pro
NM_001363695.1:c.823G>C	NP_001350624.1:p.Ala275Pro
NM_000310.4:c.895G>C MANE Select	NP_000301.1:p.Ala299Pro
NM_001142604.2:c.586G>C	NP_001136076.1:p.Ala196Pro
NM_001363695.2:c.823G>C	NP_001350624.1:p.Ala275Pro