Canonical Allele Identifier: CA20998810

Gene: PPT1

Linked Data

• dbSNP Id: rs866642004
• gnomAD v2: 1-40539678-A-G
• gnomAD v3: 1-40074006-A-G
• gnomAD v4: 1-40074006-A-G
• MyVariant Identifiers: chr1:g.40539678A>G (hg19) ; chr1:g.40074006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074006A>G , CM000663.2:g.40074006A>G	GRCh38
NC_000001.10:g.40539678A>G , CM000663.1:g.40539678A>G	GRCh37
NC_000001.9:g.40312265A>G	NCBI36
NG_009192.1:g.28465T>C , LRG_690:g.28465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*55T>C	ENSP00000394863.4:n.*55T>C
ENST00000439754.6:c.*55T>C	ENSP00000403207.2:n.*55T>C
ENST00000449045.7:c.*55T>C	ENSP00000392293.2:n.*55T>C
ENST00000530076.6:c.*55T>C	ENSP00000434007.1:n.*55T>C
ENST00000530704.6:c.*599T>C	ENSP00000431655.1:n.*599T>C
ENST00000641083.1:c.1066T>C
ENST00000641236.1:n.1213T>C
ENST00000641319.1:c.*186T>C	ENSP00000493128.1:n.*186T>C
ENST00000641381.1:c.398T>C
ENST00000641471.1:c.*55T>C	ENSP00000493146.1:n.*55T>C
ENST00000641691.1:c.*828T>C	ENSP00000492910.1:n.*828T>C
ENST00000642050.2:c.*55T>C MANE Select	ENSP00000493153.1:n.*55T>C
ENST00000372775.2:n.373T>C
ENST00000433473.7:c.*55T>C	ENSP00000394863.3:n.*55T>C
ENST00000439754.5:c.589T>C	ENSP00000403207.1:n.589T>C
ENST00000449045.6:c.*55T>C	ENSP00000392293.2:n.*55T>C
ENST00000529905.5:c.*55T>C	ENSP00000432053.1:n.*55T>C
ENST00000530704.5:c.*599T>C	ENSP00000431655.1:n.*599T>C
NM_000310.3:c.*55T>C , LRG_690t1:c.*55T>C	NP_000301.1:n.*55T>C
NM_001142604.1:c.*55T>C	NP_001136076.1:n.*55T>C
XM_005271008.1:c.*55T>C	XP_005271065.1:n.*55T>C
NM_001363695.1:c.*55T>C	NP_001350624.1:n.*55T>C
NM_000310.4:c.*55T>C MANE Select	NP_000301.1:n.*55T>C
NM_001142604.2:c.*55T>C	NP_001136076.1:n.*55T>C
NM_001363695.2:c.*55T>C	NP_001350624.1:n.*55T>C