Canonical Allele Identifier: CA522422985

Gene: PPT1

Linked Data

• dbSNP Id: rs1412665091
• gnomAD v2: 1-40562953-C-G
• gnomAD v4: 1-40097281-C-G
• MyVariant Identifiers: chr1:g.40562953C>G (hg19) ; chr1:g.40097281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097281C>G , CM000663.2:g.40097281C>G	GRCh38
NC_000001.10:g.40562953C>G , CM000663.1:g.40562953C>G	GRCh37
NC_000001.9:g.40335540C>G	NCBI36
NG_009192.1:g.5190G>C , LRG_690:g.5190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-43G>C	ENSP00000394863.3:n.-43G>C
NM_000310.3:c.-43G>C , LRG_690t1:c.-43G>C	NP_000301.1:n.-43G>C
NM_001142604.1:c.-43G>C	NP_001136076.1:n.-43G>C
NM_001363695.1:c.-43G>C	NP_001350624.1:n.-43G>C