Canonical Allele Identifier: CA21007548

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1990941
• ClinVar RCV Id: RCV002771480
• dbSNP Id: rs386833658
• gnomAD v2: 1-40546130-G-A
• gnomAD v4: 1-40080458-G-A
• MyVariant Identifiers: chr1:g.40546130G>A (hg19) ; chr1:g.40080458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080458G>A , CM000663.2:g.40080458G>A	GRCh38
NC_000001.10:g.40546130G>A , CM000663.1:g.40546130G>A	GRCh37
NC_000001.9:g.40318717G>A	NCBI36
NG_009192.1:g.22013C>T , LRG_690:g.22013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*402C>T	ENSP00000361865.5:n.*402C>T
ENST00000433473.8:c.563C>T	ENSP00000394863.4:p.Pro188Leu
ENST00000439754.6:c.566C>T	ENSP00000403207.2:p.Pro189Leu
ENST00000449045.7:c.257C>T	ENSP00000392293.2:p.Pro86Leu
ENST00000527311.7:c.335C>T	ENSP00000436695.3:p.Pro112Leu
ENST00000530076.6:c.-92C>T	ENSP00000434007.1:n.-92C>T
ENST00000530704.6:c.*189C>T	ENSP00000431655.1:n.*189C>T
ENST00000641083.1:c.544C>T
ENST00000641236.1:n.803C>T
ENST00000641319.1:c.566C>T	ENSP00000493128.1:p.Pro189Leu
ENST00000641381.1:c.149-3545C>T
ENST00000641471.1:c.653C>T	ENSP00000493146.1:p.Pro218Leu
ENST00000641691.1:c.*418C>T	ENSP00000492910.1:n.*418C>T
ENST00000641924.1:c.154C>T	ENSP00000493063.1:p.Pro52Ser
ENST00000642050.2:c.566C>T MANE Select	ENSP00000493153.1:p.Pro189Leu
ENST00000372779.8:c.653C>T	ENSP00000361865.4:p.Pro218Leu
ENST00000433473.7:c.566C>T	ENSP00000394863.3:p.Pro189Leu
ENST00000439754.5:c.251C>T	ENSP00000403207.1:p.Pro84Leu
ENST00000449045.6:c.257C>T	ENSP00000392293.2:p.Pro86Leu
ENST00000527311.6:c.341C>T	ENSP00000436695.2:p.Pro114Leu
ENST00000529905.5:c.566C>T	ENSP00000432053.1:p.Pro189Leu
ENST00000530076.5:c.-92C>T	ENSP00000434007.1:n.-92C>T
ENST00000530704.5:c.*189C>T	ENSP00000431655.1:n.*189C>T
NM_000310.3:c.566C>T , LRG_690t1:c.566C>T	NP_000301.1:p.Pro189Leu
NM_001142604.1:c.257C>T	NP_001136076.1:p.Pro86Leu
XM_005271008.1:c.566C>T	XP_005271065.1:p.Pro189Leu
NM_001363695.1:c.566C>T	NP_001350624.1:p.Pro189Leu
NM_000310.4:c.566C>T MANE Select	NP_000301.1:p.Pro189Leu
NM_001142604.2:c.257C>T	NP_001136076.1:p.Pro86Leu
NM_001363695.2:c.566C>T	NP_001350624.1:p.Pro189Leu