Canonical Allele Identifier: CA339847728

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080439A>C , CM000663.2:g.40080439A>C	GRCh38
NC_000001.10:g.40546111A>C , CM000663.1:g.40546111A>C	GRCh37
NC_000001.9:g.40318698A>C	NCBI36
NG_009192.1:g.22032T>G , LRG_690:g.22032T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.585T>G MANE Select	NP_000301.1:p.Tyr195Ter
ENST00000642050.2:c.585T>G MANE Select	ENSP00000493153.1:p.Tyr195Ter
NM_000310.3:c.585T>G , LRG_690t1:c.585T>G	NP_000301.1:p.Tyr195Ter
NM_001142604.1:c.276T>G	NP_001136076.1:p.Tyr92Ter
NM_001142604.2:c.276T>G	NP_001136076.1:p.Tyr92Ter
NM_001363695.1:c.585T>G	NP_001350624.1:p.Tyr195Ter
NM_001363695.2:c.585T>G	NP_001350624.1:p.Tyr195Ter
ENST00000372779.8:c.672T>G	ENSP00000361865.4:p.Tyr224Ter
ENST00000433473.7:c.585T>G	ENSP00000394863.3:p.Tyr195Ter
ENST00000433473.8:c.582T>G	ENSP00000394863.4:p.Tyr194Ter
ENST00000439754.5:c.270T>G	ENSP00000403207.1:p.Tyr90Ter
ENST00000439754.6:c.585T>G	ENSP00000403207.2:p.Tyr195Ter
ENST00000449045.6:c.276T>G	ENSP00000392293.2:p.Tyr92Ter
ENST00000449045.7:c.276T>G	ENSP00000392293.2:p.Tyr92Ter
ENST00000527311.6:c.360T>G	ENSP00000436695.2:p.Tyr120Ter
ENST00000527311.7:c.354T>G	ENSP00000436695.3:p.Tyr118Ter
ENST00000529905.5:c.585T>G	ENSP00000432053.1:p.Tyr195Ter
ENST00000530076.5:c.-73T>G	ENSP00000434007.1:n.-73T>G
ENST00000530076.6:c.-73T>G	ENSP00000434007.1:n.-73T>G
ENST00000530704.5:c.*208T>G	ENSP00000431655.1:n.*208T>G
ENST00000530704.6:c.*208T>G	ENSP00000431655.1:n.*208T>G
ENST00000641083.1:c.563T>G
ENST00000641236.1:n.822T>G
ENST00000641319.1:c.585T>G	ENSP00000493128.1:p.Tyr195Ter
ENST00000641381.1:c.149-3526T>G
ENST00000641471.1:c.672T>G	ENSP00000493146.1:p.Tyr224Ter
ENST00000641691.1:c.*437T>G	ENSP00000492910.1:n.*437T>G
ENST00000641924.1:c.*14T>G	ENSP00000493063.1:n.*14T>G
XM_005271008.1:c.585T>G	XP_005271065.1:p.Tyr195Ter