Canonical Allele Identifier: CA913241764
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1557716996
gnomAD v2: 1-40563132-A-C
gnomAD v3: 1-40097460-A-C
gnomAD v4: 1-40097460-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097460A>C , CM000663.2:g.40097460A>C GRCh38
NC_000001.10:g.40563132A>C , CM000663.1:g.40563132A>C GRCh37
NC_000001.9:g.40335719A>C NCBI36
NG_009192.1:g.5011T>G , LRG_690:g.5011T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-222T>G ENSP00000394863.3:n.-222T>G
NM_000310.3:c.-222T>G , LRG_690t1:c.-222T>G NP_000301.1:n.-222T>G
NM_001142604.1:c.-222T>G NP_001136076.1:n.-222T>G
NM_001363695.1:c.-222T>G NP_001350624.1:n.-222T>G
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