Canonical Allele Identifier: CA789878
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs752301327
ExAC: 1:40562946 C / T
gnomAD v2: 1-40562946-C-T
gnomAD v4: 1-40097274-C-T
MyVariant Identifiers: chr1:g.40562946C>T (hg19) chr1:g.40097274C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097274C>T , CM000663.2:g.40097274C>T GRCh38
NC_000001.10:g.40562946C>T , CM000663.1:g.40562946C>T GRCh37
NC_000001.9:g.40335533C>T NCBI36
NG_009192.1:g.5197G>A , LRG_690:g.5197G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-36G>A ENSP00000394863.3:n.-36G>A
NM_000310.3:c.-36G>A , LRG_690t1:c.-36G>A NP_000301.1:n.-36G>A
NM_001142604.1:c.-36G>A NP_001136076.1:n.-36G>A
NM_001363695.1:c.-36G>A NP_001350624.1:n.-36G>A
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