Canonical Allele Identifier: CA339848895
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091377G>C , CM000663.2:g.40091377G>C GRCh38
NC_000001.10:g.40557049G>C , CM000663.1:g.40557049G>C GRCh37
NC_000001.9:g.40329636G>C NCBI36
NG_009192.1:g.11094C>G , LRG_690:g.11094C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*221C>G ENSP00000361865.5:n.*221C>G
ENST00000433473.8:c.382C>G ENSP00000394863.4:p.Pro128Ala
ENST00000439754.6:c.385C>G ENSP00000403207.2:p.Pro129Ala
ENST00000449045.7:c.125-1865C>G ENSP00000392293.2:n.125-1865C>G
ENST00000526547.2:c.665C>G
ENST00000527311.7:c.257C>G ENSP00000436695.3:p.Pro86Arg
ENST00000530704.6:c.385C>G ENSP00000431655.1:p.Pro129Ala
ENST00000641083.1:c.363C>G
ENST00000641236.1:n.622C>G
ENST00000641319.1:c.385C>G ENSP00000493128.1:p.Pro129Ala
ENST00000641471.1:c.472C>G ENSP00000493146.1:p.Pro158Ala
ENST00000641548.1:c.*237C>G ENSP00000492984.1:n.*237C>G
ENST00000641691.1:c.*237C>G ENSP00000492910.1:n.*237C>G
ENST00000641924.1:c.124+5738C>G ENSP00000493063.1:n.124+5738C>G
ENST00000642050.2:c.385C>G MANE Select ENSP00000493153.1:p.Pro129Ala
ENST00000372779.8:c.472C>G ENSP00000361865.4:p.Pro158Ala
ENST00000433473.7:c.385C>G ENSP00000394863.3:p.Pro129Ala
ENST00000439754.5:c.70C>G ENSP00000403207.1:p.Pro24Ala
ENST00000449045.6:c.125-1865C>G ENSP00000392293.2:n.125-1865C>G
ENST00000526547.1:c.235C>G ENSP00000436481.1:p.Pro79Ala
ENST00000527311.6:c.160C>G ENSP00000436695.2:p.Pro54Ala
ENST00000529905.5:c.385C>G ENSP00000432053.1:p.Pro129Ala
ENST00000530704.5:c.385C>G ENSP00000431655.1:p.Pro129Ala
NM_000310.3:c.385C>G , LRG_690t1:c.385C>G NP_000301.1:p.Pro129Ala
NM_001142604.1:c.125-1865C>G NP_001136076.1:n.125-1865C>G
XM_005271008.1:c.385C>G XP_005271065.1:p.Pro129Ala
NM_001363695.1:c.385C>G NP_001350624.1:p.Pro129Ala
NM_000310.4:c.385C>G MANE Select NP_000301.1:p.Pro129Ala
NM_001142604.2:c.125-1865C>G NP_001136076.1:n.125-1865C>G
NM_001363695.2:c.385C>G NP_001350624.1:p.Pro129Ala