Canonical Allele Identifier: CA789872
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs371142994
ExAC: 1:40562925 A / G
gnomAD v2: 1-40562925-A-G
gnomAD v3: 1-40097253-A-G
gnomAD v4: 1-40097253-A-G
MyVariant Identifiers: chr1:g.40562925A>G (hg19) chr1:g.40097253A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097253A>G , CM000663.2:g.40097253A>G GRCh38
NC_000001.10:g.40562925A>G , CM000663.1:g.40562925A>G GRCh37
NC_000001.9:g.40335512A>G NCBI36
NG_009192.1:g.5218T>C , LRG_690:g.5218T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449045.7:c.-15T>C ENSP00000392293.2:n.-15T>C
ENST00000641319.1:c.-15T>C ENSP00000493128.1:n.-15T>C
ENST00000641691.1:c.-15T>C ENSP00000492910.1:n.-15T>C
ENST00000433473.7:c.-15T>C ENSP00000394863.3:n.-15T>C
NM_000310.3:c.-15T>C , LRG_690t1:c.-15T>C NP_000301.1:n.-15T>C
NM_001142604.1:c.-15T>C NP_001136076.1:n.-15T>C
XM_005271008.1:c.-15T>C XP_005271065.1:n.-15T>C
NM_001363695.1:c.-15T>C NP_001350624.1:n.-15T>C
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