Canonical Allele Identifier: CA339846757

Gene: PPT1

Linked Data

• dbSNP Id: rs776618627
• gnomAD v4: 1-40078607-T-A
• MyVariant Identifiers: chr1:g.40544279T>A (hg19) ; chr1:g.40078607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078607T>A , CM000663.2:g.40078607T>A	GRCh38
NC_000001.10:g.40544279T>A , CM000663.1:g.40544279T>A	GRCh37
NC_000001.9:g.40316866T>A	NCBI36
NG_009192.1:g.23864A>T , LRG_690:g.23864A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.676A>T	ENSP00000394863.4:p.Met226Leu
ENST00000439754.6:c.679A>T	ENSP00000403207.2:p.Met227Leu
ENST00000449045.7:c.370A>T	ENSP00000392293.2:p.Met124Leu
ENST00000527311.7:c.448A>T	ENSP00000436695.3:p.Met150Leu
ENST00000530076.6:c.22A>T	ENSP00000434007.1:p.Met8Leu
ENST00000530704.6:c.*302A>T	ENSP00000431655.1:n.*302A>T
ENST00000641083.1:c.657A>T
ENST00000641236.1:n.916A>T
ENST00000641319.1:c.679A>T	ENSP00000493128.1:p.Met227Leu
ENST00000641381.1:c.149-1694A>T
ENST00000641471.1:c.766A>T	ENSP00000493146.1:p.Met256Leu
ENST00000641691.1:c.*531A>T	ENSP00000492910.1:n.*531A>T
ENST00000641924.1:c.*108A>T	ENSP00000493063.1:n.*108A>T
ENST00000642050.2:c.679A>T MANE Select	ENSP00000493153.1:p.Met227Leu
ENST00000372775.2:n.76A>T
ENST00000372779.8:c.766A>T	ENSP00000361865.4:p.Met256Leu
ENST00000433473.7:c.679A>T	ENSP00000394863.3:p.Met227Leu
ENST00000439754.5:c.364A>T	ENSP00000403207.1:p.Met122Leu
ENST00000449045.6:c.370A>T	ENSP00000392293.2:p.Met124Leu
ENST00000527311.6:c.454A>T	ENSP00000436695.2:p.Met152Leu
ENST00000529905.5:c.679A>T	ENSP00000432053.1:p.Met227Leu
ENST00000530076.5:c.22A>T	ENSP00000434007.1:p.Met8Leu
ENST00000530704.5:c.*302A>T	ENSP00000431655.1:n.*302A>T
NM_000310.3:c.679A>T , LRG_690t1:c.679A>T	NP_000301.1:p.Met227Leu
NM_001142604.1:c.370A>T	NP_001136076.1:p.Met124Leu
XM_005271008.1:c.679A>T	XP_005271065.1:p.Met227Leu
NM_001363695.1:c.679A>T	NP_001350624.1:p.Met227Leu
NM_000310.4:c.679A>T MANE Select	NP_000301.1:p.Met227Leu
NM_001142604.2:c.370A>T	NP_001136076.1:p.Met124Leu
NM_001363695.2:c.679A>T	NP_001350624.1:p.Met227Leu