Canonical Allele Identifier: CA339845482

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074106-C-G
• MyVariant Identifiers: chr1:g.40539778C>G (hg19) ; chr1:g.40074106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074106C>G , CM000663.2:g.40074106C>G	GRCh38
NC_000001.10:g.40539778C>G , CM000663.1:g.40539778C>G	GRCh37
NC_000001.9:g.40312365C>G	NCBI36
NG_009192.1:g.28365G>C , LRG_690:g.28365G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.873G>C	ENSP00000394863.4:p.Leu291Phe
ENST00000439754.6:c.804G>C	ENSP00000403207.2:p.Leu268Phe
ENST00000449045.7:c.567G>C	ENSP00000392293.2:p.Leu189Phe
ENST00000530076.6:c.219G>C	ENSP00000434007.1:p.Leu73Phe
ENST00000530704.6:c.*499G>C	ENSP00000431655.1:n.*499G>C
ENST00000641083.1:c.966G>C
ENST00000641236.1:n.1113G>C
ENST00000641319.1:c.*86G>C	ENSP00000493128.1:n.*86G>C
ENST00000641381.1:c.298G>C
ENST00000641471.1:c.963G>C	ENSP00000493146.1:p.Leu321Phe
ENST00000641691.1:c.*728G>C	ENSP00000492910.1:n.*728G>C
ENST00000641924.1:c.*305G>C	ENSP00000493063.1:n.*305G>C
ENST00000642050.2:c.876G>C MANE Select	ENSP00000493153.1:p.Leu292Phe
ENST00000372775.2:n.273G>C
ENST00000433473.7:c.876G>C	ENSP00000394863.3:p.Leu292Phe
ENST00000439754.5:c.489G>C	ENSP00000403207.1:p.Leu163Phe
ENST00000449045.6:c.567G>C	ENSP00000392293.2:p.Leu189Phe
ENST00000529905.5:c.876G>C	ENSP00000432053.1:p.Leu292Phe
ENST00000530076.5:c.219G>C	ENSP00000434007.1:p.Leu73Phe
ENST00000530704.5:c.*499G>C	ENSP00000431655.1:n.*499G>C
NM_000310.3:c.876G>C , LRG_690t1:c.876G>C	NP_000301.1:p.Leu292Phe
NM_001142604.1:c.567G>C	NP_001136076.1:p.Leu189Phe
XM_005271008.1:c.804G>C	XP_005271065.1:p.Leu268Phe
NM_001363695.1:c.804G>C	NP_001350624.1:p.Leu268Phe
NM_000310.4:c.876G>C MANE Select	NP_000301.1:p.Leu292Phe
NM_001142604.2:c.567G>C	NP_001136076.1:p.Leu189Phe
NM_001363695.2:c.804G>C	NP_001350624.1:p.Leu268Phe