Canonical Allele Identifier: CA1164252148

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092070_40092072delinsCCA , CM000663.2:g.40092070_40092072delinsCCA	GRCh38
NC_000001.10:g.40557742_40557744delinsCCA , CM000663.1:g.40557742_40557744delinsCCA	GRCh37
NC_000001.9:g.40330329_40330331delinsCCA	NCBI36
NG_009192.1:g.10399_10401delinsTGG , LRG_690:g.10399_10401delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*171_*173delinsTGG	ENSP00000361865.5:n.*171_*173delinsTGG
ENST00000433473.8:c.332_334delinsTGG	ENSP00000394863.4:p.Met111=
ENST00000439754.6:c.335_337delinsTGG	ENSP00000403207.2:p.Met112=
ENST00000449045.7:c.125-2560_125-2558delinsTGG	ENSP00000392293.2:n.125-2560_125-2558delinsTGG
ENST00000526547.2:c.615_617delinsTGG
ENST00000527311.7:c.234+326_234+328delinsTGG	ENSP00000436695.3:n.234+326_234+328delinsTGG
ENST00000530704.6:c.335_337delinsTGG	ENSP00000431655.1:p.Met112=
ENST00000641083.1:c.313_315delinsTGG
ENST00000641236.1:n.572_574delinsTGG
ENST00000641319.1:c.335_337delinsTGG	ENSP00000493128.1:p.Met112=
ENST00000641471.1:c.422_424delinsTGG	ENSP00000493146.1:p.Met141=
ENST00000641548.1:c.*187_*189delinsTGG	ENSP00000492984.1:n.*187_*189delinsTGG
ENST00000641691.1:c.*187_*189delinsTGG	ENSP00000492910.1:n.*187_*189delinsTGG
ENST00000641924.1:c.124+5043_124+5045delinsTGG	ENSP00000493063.1:n.124+5043_124+5045delinsTGG
ENST00000642050.2:c.335_337delinsTGG MANE Select	ENSP00000493153.1:p.Met112=
ENST00000372779.8:c.422_424delinsTGG	ENSP00000361865.4:p.Met141=
ENST00000433473.7:c.335_337delinsTGG	ENSP00000394863.3:p.Met112=
ENST00000439754.5:c.20_22delinsTGG	ENSP00000403207.1:p.Met7=
ENST00000449045.6:c.125-2560_125-2558delinsTGG	ENSP00000392293.2:n.125-2560_125-2558delinsTGG
ENST00000526547.1:c.185_187delinsTGG	ENSP00000436481.1:p.Met62=
ENST00000527311.6:c.125-15_125-13delinsTGG	ENSP00000436695.2:n.125-15_125-13delinsTGG
ENST00000529905.5:c.335_337delinsTGG	ENSP00000432053.1:p.Met112=
ENST00000530704.5:c.335_337delinsTGG	ENSP00000431655.1:p.Met112=
NM_000310.3:c.335_337delinsTGG , LRG_690t1:c.335_337delinsTGG	NP_000301.1:p.Met112=
NM_001142604.1:c.125-2560_125-2558delinsTGG	NP_001136076.1:n.125-2560_125-2558delinsTGG
XM_005271008.1:c.335_337delinsTGG	XP_005271065.1:p.Met112=
NM_001363695.1:c.335_337delinsTGG	NP_001350624.1:p.Met112=
NM_000310.4:c.335_337delinsTGG MANE Select	NP_000301.1:p.Met112=
NM_001142604.2:c.125-2560_125-2558delinsTGG	NP_001136076.1:n.125-2560_125-2558delinsTGG
NM_001363695.2:c.335_337delinsTGG	NP_001350624.1:p.Met112=