Canonical Allele Identifier: CA2546214617

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097430C>G , CM000663.2:g.40097430C>G	GRCh38
NC_000001.10:g.40563102C>G , CM000663.1:g.40563102C>G	GRCh37
NC_000001.9:g.40335689C>G	NCBI36
NG_009192.1:g.5041G>C , LRG_690:g.5041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-192G>C	ENSP00000394863.3:n.-192G>C
NM_000310.3:c.-192G>C , LRG_690t1:c.-192G>C	NP_000301.1:n.-192G>C
NM_001142604.1:c.-192G>C	NP_001136076.1:n.-192G>C
NM_001363695.1:c.-192G>C	NP_001350624.1:n.-192G>C