Canonical Allele Identifier: CA658795430

Gene: PPT1

Linked Data

• ClinVar Variation Id: 511568
• ClinVar RCV Id: RCV000600364
• dbSNP Id: rs1553167414
• MyVariant Identifiers: chr1:g.40556996G>C (hg19) ; chr1:g.40091324G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091324G>C , CM000663.2:g.40091324G>C	GRCh38
NC_000001.10:g.40556996G>C , CM000663.1:g.40556996G>C	GRCh37
NC_000001.9:g.40329583G>C	NCBI36
NG_009192.1:g.11147C>G , LRG_690:g.11147C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+5C>G	ENSP00000361865.5:n.*269+5C>G
ENST00000433473.8:c.430+5C>G	ENSP00000394863.4:n.430+5C>G
ENST00000439754.6:c.433+5C>G	ENSP00000403207.2:n.433+5C>G
ENST00000449045.7:c.125-1812C>G	ENSP00000392293.2:n.125-1812C>G
ENST00000526547.2:c.713+5C>G
ENST00000527311.7:c.305+5C>G	ENSP00000436695.3:n.305+5C>G
ENST00000530704.6:c.433+5C>G	ENSP00000431655.1:n.433+5C>G
ENST00000641083.1:c.411+5C>G
ENST00000641236.1:n.670+5C>G
ENST00000641319.1:c.433+5C>G	ENSP00000493128.1:n.433+5C>G
ENST00000641381.1:c.45+5C>G
ENST00000641471.1:c.520+5C>G	ENSP00000493146.1:n.520+5C>G
ENST00000641548.1:c.*285+5C>G	ENSP00000492984.1:n.*285+5C>G
ENST00000641691.1:c.*285+5C>G	ENSP00000492910.1:n.*285+5C>G
ENST00000641924.1:c.124+5791C>G	ENSP00000493063.1:n.124+5791C>G
ENST00000642050.2:c.433+5C>G MANE Select	ENSP00000493153.1:n.433+5C>G
ENST00000372779.8:c.520+5C>G	ENSP00000361865.4:n.520+5C>G
ENST00000433473.7:c.433+5C>G	ENSP00000394863.3:n.433+5C>G
ENST00000439754.5:c.118+5C>G	ENSP00000403207.1:n.118+5C>G
ENST00000449045.6:c.125-1812C>G	ENSP00000392293.2:n.125-1812C>G
ENST00000526547.1:c.283+5C>G	ENSP00000436481.1:n.283+5C>G
ENST00000527311.6:c.208+5C>G	ENSP00000436695.2:n.208+5C>G
ENST00000529905.5:c.433+5C>G	ENSP00000432053.1:n.433+5C>G
ENST00000530704.5:c.433+5C>G	ENSP00000431655.1:n.433+5C>G
NM_000310.3:c.433+5C>G , LRG_690t1:c.433+5C>G	NP_000301.1:n.433+5C>G
NM_001142604.1:c.125-1812C>G	NP_001136076.1:n.125-1812C>G
XM_005271008.1:c.433+5C>G	XP_005271065.1:n.433+5C>G
NM_001363695.1:c.433+5C>G	NP_001350624.1:n.433+5C>G
NM_000310.4:c.433+5C>G MANE Select	NP_000301.1:n.433+5C>G
NM_001142604.2:c.125-1812C>G	NP_001136076.1:n.125-1812C>G
NM_001363695.2:c.433+5C>G	NP_001350624.1:n.433+5C>G