Canonical Allele Identifier: CA21021568

Gene: PPT1

Linked Data

• dbSNP Id: rs891944280
• MyVariant Identifiers: chr1:g.40563057C>T (hg19) ; chr1:g.40097385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097385C>T , CM000663.2:g.40097385C>T	GRCh38
NC_000001.10:g.40563057C>T , CM000663.1:g.40563057C>T	GRCh37
NC_000001.9:g.40335644C>T	NCBI36
NG_009192.1:g.5086G>A , LRG_690:g.5086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-147G>A	ENSP00000394863.3:n.-147G>A
NM_000310.3:c.-147G>A , LRG_690t1:c.-147G>A	NP_000301.1:n.-147G>A
NM_001142604.1:c.-147G>A	NP_001136076.1:n.-147G>A
NM_001363695.1:c.-147G>A	NP_001350624.1:n.-147G>A