Canonical Allele Identifier: CA339845727

Gene: PPT1

Linked Data

• dbSNP Id: rs2124465638
• MyVariant Identifiers: chr1:g.40539831C>G (hg19) ; chr1:g.40074159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074159C>G , CM000663.2:g.40074159C>G	GRCh38
NC_000001.10:g.40539831C>G , CM000663.1:g.40539831C>G	GRCh37
NC_000001.9:g.40312418C>G	NCBI36
NG_009192.1:g.28312G>C , LRG_690:g.28312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.820G>C	ENSP00000394863.4:p.Asp274His
ENST00000439754.6:c.751G>C	ENSP00000403207.2:p.Asp251His
ENST00000449045.7:c.514G>C	ENSP00000392293.2:p.Asp172His
ENST00000527311.7:c.592G>C	ENSP00000436695.3:p.Asp198His
ENST00000530076.6:c.166G>C	ENSP00000434007.1:p.Asp56His
ENST00000530704.6:c.*446G>C	ENSP00000431655.1:n.*446G>C
ENST00000641083.1:c.913G>C
ENST00000641236.1:n.1060G>C
ENST00000641319.1:c.*33G>C	ENSP00000493128.1:n.*33G>C
ENST00000641381.1:c.245G>C
ENST00000641471.1:c.910G>C	ENSP00000493146.1:p.Asp304His
ENST00000641691.1:c.*675G>C	ENSP00000492910.1:n.*675G>C
ENST00000641924.1:c.*252G>C	ENSP00000493063.1:n.*252G>C
ENST00000642050.2:c.823G>C MANE Select	ENSP00000493153.1:p.Asp275His
ENST00000372775.2:n.220G>C
ENST00000433473.7:c.823G>C	ENSP00000394863.3:p.Asp275His
ENST00000439754.5:c.436G>C	ENSP00000403207.1:p.Asp146His
ENST00000449045.6:c.514G>C	ENSP00000392293.2:p.Asp172His
ENST00000527311.6:c.598G>C	ENSP00000436695.2:p.Asp200His
ENST00000529905.5:c.823G>C	ENSP00000432053.1:p.Asp275His
ENST00000530076.5:c.166G>C	ENSP00000434007.1:p.Asp56His
ENST00000530704.5:c.*446G>C	ENSP00000431655.1:n.*446G>C
NM_000310.3:c.823G>C , LRG_690t1:c.823G>C	NP_000301.1:p.Asp275His
NM_001142604.1:c.514G>C	NP_001136076.1:p.Asp172His
XM_005271008.1:c.751G>C	XP_005271065.1:p.Asp251His
NM_001363695.1:c.751G>C	NP_001350624.1:p.Asp251His
NM_000310.4:c.823G>C MANE Select	NP_000301.1:p.Asp275His
NM_001142604.2:c.514G>C	NP_001136076.1:p.Asp172His
NM_001363695.2:c.751G>C	NP_001350624.1:p.Asp251His