Canonical Allele Identifier: CA417322838

Gene: PPT1

Linked Data

• dbSNP Id: rs1649611498
• gnomAD v3: 1-40092341-T-C
• gnomAD v4: 1-40092341-T-C
• MyVariant Identifiers: chr1:g.40558013T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092341T>C , CM000663.2:g.40092341T>C	GRCh38
NC_000001.10:g.40558013T>C , CM000663.1:g.40558013T>C	GRCh37
NC_000001.9:g.40330600T>C	NCBI36
NG_009192.1:g.10130A>G , LRG_690:g.10130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*70+57A>G	ENSP00000361865.5:n.*70+57A>G
ENST00000433473.8:c.231+57A>G	ENSP00000394863.4:n.231+57A>G
ENST00000439754.6:c.234+57A>G	ENSP00000403207.2:n.234+57A>G
ENST00000449045.7:c.125-2829A>G	ENSP00000392293.2:n.125-2829A>G
ENST00000526547.2:c.514+57A>G
ENST00000527311.7:c.234+57A>G	ENSP00000436695.3:n.234+57A>G
ENST00000530704.6:c.234+57A>G	ENSP00000431655.1:n.234+57A>G
ENST00000641083.1:c.212+57A>G
ENST00000641236.1:n.303A>G
ENST00000641319.1:c.234+57A>G	ENSP00000493128.1:n.234+57A>G
ENST00000641471.1:c.321+57A>G	ENSP00000493146.1:n.321+57A>G
ENST00000641548.1:c.*86+57A>G	ENSP00000492984.1:n.*86+57A>G
ENST00000641691.1:c.*86+57A>G	ENSP00000492910.1:n.*86+57A>G
ENST00000641924.1:c.124+4774A>G	ENSP00000493063.1:n.124+4774A>G
ENST00000642050.2:c.234+57A>G MANE Select	ENSP00000493153.1:n.234+57A>G
ENST00000372779.8:c.321+57A>G	ENSP00000361865.4:n.321+57A>G
ENST00000433473.7:c.234+57A>G	ENSP00000394863.3:n.234+57A>G
ENST00000449045.6:c.125-2829A>G	ENSP00000392293.2:n.125-2829A>G
ENST00000526547.1:c.84+57A>G	ENSP00000436481.1:n.84+57A>G
ENST00000527311.6:c.125-284A>G	ENSP00000436695.2:n.125-284A>G
ENST00000529905.5:c.234+57A>G	ENSP00000432053.1:n.234+57A>G
ENST00000530704.5:c.234+57A>G	ENSP00000431655.1:n.234+57A>G
NM_000310.3:c.234+57A>G , LRG_690t1:c.234+57A>G	NP_000301.1:n.234+57A>G
NM_001142604.1:c.125-2829A>G	NP_001136076.1:n.125-2829A>G
XM_005271008.1:c.234+57A>G	XP_005271065.1:n.234+57A>G
NM_001363695.1:c.234+57A>G	NP_001350624.1:n.234+57A>G
NM_000310.4:c.234+57A>G MANE Select	NP_000301.1:n.234+57A>G
NM_001142604.2:c.125-2829A>G	NP_001136076.1:n.125-2829A>G
NM_001363695.2:c.234+57A>G	NP_001350624.1:n.234+57A>G