Canonical Allele Identifier: CA339845737

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539833A>G (hg19) ; chr1:g.40074161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074161A>G , CM000663.2:g.40074161A>G	GRCh38
NC_000001.10:g.40539833A>G , CM000663.1:g.40539833A>G	GRCh37
NC_000001.9:g.40312420A>G	NCBI36
NG_009192.1:g.28310T>C , LRG_690:g.28310T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.818T>C	ENSP00000394863.4:p.Met273Thr
ENST00000439754.6:c.749T>C	ENSP00000403207.2:p.Met250Thr
ENST00000449045.7:c.512T>C	ENSP00000392293.2:p.Met171Thr
ENST00000527311.7:c.590T>C	ENSP00000436695.3:p.Met197Thr
ENST00000530076.6:c.164T>C	ENSP00000434007.1:p.Met55Thr
ENST00000530704.6:c.*444T>C	ENSP00000431655.1:n.*444T>C
ENST00000641083.1:c.911T>C
ENST00000641236.1:n.1058T>C
ENST00000641319.1:c.*31T>C	ENSP00000493128.1:n.*31T>C
ENST00000641381.1:c.243T>C
ENST00000641471.1:c.908T>C	ENSP00000493146.1:p.Met303Thr
ENST00000641691.1:c.*673T>C	ENSP00000492910.1:n.*673T>C
ENST00000641924.1:c.*250T>C	ENSP00000493063.1:n.*250T>C
ENST00000642050.2:c.821T>C MANE Select	ENSP00000493153.1:p.Met274Thr
ENST00000372775.2:n.218T>C
ENST00000433473.7:c.821T>C	ENSP00000394863.3:p.Met274Thr
ENST00000439754.5:c.434T>C	ENSP00000403207.1:p.Met145Thr
ENST00000449045.6:c.512T>C	ENSP00000392293.2:p.Met171Thr
ENST00000527311.6:c.596T>C	ENSP00000436695.2:p.Met199Thr
ENST00000529905.5:c.821T>C	ENSP00000432053.1:p.Met274Thr
ENST00000530076.5:c.164T>C	ENSP00000434007.1:p.Met55Thr
ENST00000530704.5:c.*444T>C	ENSP00000431655.1:n.*444T>C
NM_000310.3:c.821T>C , LRG_690t1:c.821T>C	NP_000301.1:p.Met274Thr
NM_001142604.1:c.512T>C	NP_001136076.1:p.Met171Thr
XM_005271008.1:c.749T>C	XP_005271065.1:p.Met250Thr
NM_001363695.1:c.749T>C	NP_001350624.1:p.Met250Thr
NM_000310.4:c.821T>C MANE Select	NP_000301.1:p.Met274Thr
NM_001142604.2:c.512T>C	NP_001136076.1:p.Met171Thr
NM_001363695.2:c.749T>C	NP_001350624.1:p.Met250Thr