Canonical Allele Identifier: CA417322207

Gene: PPT1

Linked Data

• gnomAD v4: 1-40078587-A-G
• MyVariant Identifiers: chr1:g.40544259A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078587A>G , CM000663.2:g.40078587A>G	GRCh38
NC_000001.10:g.40544259A>G , CM000663.1:g.40544259A>G	GRCh37
NC_000001.9:g.40316846A>G	NCBI36
NG_009192.1:g.23884T>C , LRG_690:g.23884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.696T>C	ENSP00000394863.4:p.Asp232=
ENST00000439754.6:c.699T>C	ENSP00000403207.2:p.Asp233=
ENST00000449045.7:c.390T>C	ENSP00000392293.2:p.Asp130=
ENST00000527311.7:c.468T>C	ENSP00000436695.3:p.Asp156=
ENST00000530076.6:c.42T>C	ENSP00000434007.1:p.Asp14=
ENST00000530704.6:c.*322T>C	ENSP00000431655.1:n.*322T>C
ENST00000641083.1:c.677T>C
ENST00000641236.1:n.936T>C
ENST00000641319.1:c.699T>C	ENSP00000493128.1:p.Asp233=
ENST00000641381.1:c.149-1674T>C
ENST00000641471.1:c.786T>C	ENSP00000493146.1:p.Asp262=
ENST00000641691.1:c.*551T>C	ENSP00000492910.1:n.*551T>C
ENST00000641924.1:c.*128T>C	ENSP00000493063.1:n.*128T>C
ENST00000642050.2:c.699T>C MANE Select	ENSP00000493153.1:p.Asp233=
ENST00000372775.2:n.96T>C
ENST00000372779.8:c.786T>C	ENSP00000361865.4:p.Asp262=
ENST00000433473.7:c.699T>C	ENSP00000394863.3:p.Asp233=
ENST00000439754.5:c.384T>C	ENSP00000403207.1:p.Asp128=
ENST00000449045.6:c.390T>C	ENSP00000392293.2:p.Asp130=
ENST00000527311.6:c.474T>C	ENSP00000436695.2:p.Asp158=
ENST00000529905.5:c.699T>C	ENSP00000432053.1:p.Asp233=
ENST00000530076.5:c.42T>C	ENSP00000434007.1:p.Asp14=
ENST00000530704.5:c.*322T>C	ENSP00000431655.1:n.*322T>C
NM_000310.3:c.699T>C , LRG_690t1:c.699T>C	NP_000301.1:p.Asp233=
NM_001142604.1:c.390T>C	NP_001136076.1:p.Asp130=
XM_005271008.1:c.699T>C	XP_005271065.1:p.Asp233=
NM_001363695.1:c.699T>C	NP_001350624.1:p.Asp233=
NM_000310.4:c.699T>C MANE Select	NP_000301.1:p.Asp233=
NM_001142604.2:c.390T>C	NP_001136076.1:p.Asp130=
NM_001363695.2:c.699T>C	NP_001350624.1:p.Asp233=