Canonical Allele Identifier: CA339847920

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546154A>G (hg19) ; chr1:g.40080482A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080482A>G , CM000663.2:g.40080482A>G	GRCh38
NC_000001.10:g.40546154A>G , CM000663.1:g.40546154A>G	GRCh37
NC_000001.9:g.40318741A>G	NCBI36
NG_009192.1:g.21989T>C , LRG_690:g.21989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*378T>C	ENSP00000361865.5:n.*378T>C
ENST00000433473.8:c.539T>C	ENSP00000394863.4:p.Val180Ala
ENST00000439754.6:c.542T>C	ENSP00000403207.2:p.Val181Ala
ENST00000449045.7:c.233T>C	ENSP00000392293.2:p.Val78Ala
ENST00000527311.7:c.311T>C	ENSP00000436695.3:p.Val104Ala
ENST00000530076.6:c.-116T>C	ENSP00000434007.1:n.-116T>C
ENST00000530704.6:c.*165T>C	ENSP00000431655.1:n.*165T>C
ENST00000641083.1:c.520T>C
ENST00000641236.1:n.779T>C
ENST00000641319.1:c.542T>C	ENSP00000493128.1:p.Val181Ala
ENST00000641381.1:c.149-3569T>C
ENST00000641471.1:c.629T>C	ENSP00000493146.1:p.Val210Ala
ENST00000641691.1:c.*394T>C	ENSP00000492910.1:n.*394T>C
ENST00000641924.1:c.130T>C	ENSP00000493063.1:p.Cys44Arg
ENST00000642050.2:c.542T>C MANE Select	ENSP00000493153.1:p.Val181Ala
ENST00000372779.8:c.629T>C	ENSP00000361865.4:p.Val210Ala
ENST00000433473.7:c.542T>C	ENSP00000394863.3:p.Val181Ala
ENST00000439754.5:c.227T>C	ENSP00000403207.1:p.Val76Ala
ENST00000449045.6:c.233T>C	ENSP00000392293.2:p.Val78Ala
ENST00000527311.6:c.317T>C	ENSP00000436695.2:p.Val106Ala
ENST00000529905.5:c.542T>C	ENSP00000432053.1:p.Val181Ala
ENST00000530076.5:c.-116T>C	ENSP00000434007.1:n.-116T>C
ENST00000530704.5:c.*165T>C	ENSP00000431655.1:n.*165T>C
NM_000310.3:c.542T>C , LRG_690t1:c.542T>C	NP_000301.1:p.Val181Ala
NM_001142604.1:c.233T>C	NP_001136076.1:p.Val78Ala
XM_005271008.1:c.542T>C	XP_005271065.1:p.Val181Ala
NM_001363695.1:c.542T>C	NP_001350624.1:p.Val181Ala
NM_000310.4:c.542T>C MANE Select	NP_000301.1:p.Val181Ala
NM_001142604.2:c.233T>C	NP_001136076.1:p.Val78Ala
NM_001363695.2:c.542T>C	NP_001350624.1:p.Val181Ala