Canonical Allele Identifier: CA522418592

Gene: PPT1

Linked Data

• dbSNP Id: rs1481804114
• gnomAD v2: 1-40546090-CAAG-C
• gnomAD v3: 1-40080418-CAAG-C
• gnomAD v4: 1-40080418-CAAG-C
• MyVariant Identifiers: chr1:g.40546091_40546093del (hg19) ; chr1:g.40080419_40080421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080423_40080425del , CM000663.2:g.40080423_40080425del	GRCh38
NC_000001.10:g.40546095_40546097del , CM000663.1:g.40546095_40546097del	GRCh37
NC_000001.9:g.40318682_40318684del	NCBI36
NG_009192.1:g.22050_22052del , LRG_690:g.22050_22052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.600_602del	ENSP00000394863.4:p.Phe200del
ENST00000439754.6:c.603_605del	ENSP00000403207.2:p.Phe201del
ENST00000449045.7:c.294_296del	ENSP00000392293.2:p.Phe98del
ENST00000527311.7:c.372_374del	ENSP00000436695.3:p.Phe124del
ENST00000530076.6:c.-55_-53del	ENSP00000434007.1:n.-55_-53del
ENST00000530704.6:c.*226_*228del	ENSP00000431655.1:n.*226_*228del
ENST00000641083.1:c.581_583del
ENST00000641236.1:n.840_842del
ENST00000641319.1:c.603_605del	ENSP00000493128.1:p.Phe201del
ENST00000641381.1:c.149-3508_149-3506del
ENST00000641471.1:c.690_692del	ENSP00000493146.1:p.Phe230del
ENST00000641691.1:c.*455_*457del	ENSP00000492910.1:n.*455_*457del
ENST00000641924.1:c.*32_*34del	ENSP00000493063.1:n.*32_*34del
ENST00000642050.2:c.603_605del MANE Select	ENSP00000493153.1:p.Phe201del
ENST00000372779.8:c.690_692del	ENSP00000361865.4:p.Phe230del
ENST00000433473.7:c.603_605del	ENSP00000394863.3:p.Phe201del
ENST00000439754.5:c.288_290del	ENSP00000403207.1:p.Phe96del
ENST00000449045.6:c.294_296del	ENSP00000392293.2:p.Phe98del
ENST00000527311.6:c.378_380del	ENSP00000436695.2:p.Phe126del
ENST00000529905.5:c.603_605del	ENSP00000432053.1:p.Phe201del
ENST00000530076.5:c.-55_-53del	ENSP00000434007.1:n.-55_-53del
ENST00000530704.5:c.*226_*228del	ENSP00000431655.1:n.*226_*228del
NM_000310.3:c.603_605del , LRG_690t1:c.603_605del	NP_000301.1:p.Phe201del
NM_001142604.1:c.294_296del	NP_001136076.1:p.Phe98del
XM_005271008.1:c.603_605del	XP_005271065.1:p.Phe201del
NM_001363695.1:c.603_605del	NP_001350624.1:p.Phe201del
NM_000310.4:c.603_605del MANE Select	NP_000301.1:p.Phe201del
NM_001142604.2:c.294_296del	NP_001136076.1:p.Phe98del
NM_001363695.2:c.603_605del	NP_001350624.1:p.Phe201del