Canonical Allele Identifier: CA789592

Gene: PPT1

Linked Data

• dbSNP Id: rs762647724
• ExAC: 1:40544310 C / G
• gnomAD v2: 1-40544310-C-G
• gnomAD v4: 1-40078638-C-G
• MyVariant Identifiers: chr1:g.40544310C>G (hg19) ; chr1:g.40078638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078638C>G , CM000663.2:g.40078638C>G	GRCh38
NC_000001.10:g.40544310C>G , CM000663.1:g.40544310C>G	GRCh37
NC_000001.9:g.40316897C>G	NCBI36
NG_009192.1:g.23833G>C , LRG_690:g.23833G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.645G>C	ENSP00000394863.4:p.Lys215Asn
ENST00000439754.6:c.648G>C	ENSP00000403207.2:p.Lys216Asn
ENST00000449045.7:c.339G>C	ENSP00000392293.2:p.Lys113Asn
ENST00000527311.7:c.417G>C	ENSP00000436695.3:p.Lys139Asn
ENST00000530076.6:c.-10G>C	ENSP00000434007.1:n.-10G>C
ENST00000530704.6:c.*271G>C	ENSP00000431655.1:n.*271G>C
ENST00000641083.1:c.626G>C
ENST00000641236.1:n.885G>C
ENST00000641319.1:c.648G>C	ENSP00000493128.1:p.Lys216Asn
ENST00000641381.1:c.149-1725G>C
ENST00000641471.1:c.735G>C	ENSP00000493146.1:p.Lys245Asn
ENST00000641691.1:c.*500G>C	ENSP00000492910.1:n.*500G>C
ENST00000641924.1:c.*77G>C	ENSP00000493063.1:n.*77G>C
ENST00000642050.2:c.648G>C MANE Select	ENSP00000493153.1:p.Lys216Asn
ENST00000372775.2:n.45G>C
ENST00000372779.8:c.735G>C	ENSP00000361865.4:p.Lys245Asn
ENST00000433473.7:c.648G>C	ENSP00000394863.3:p.Lys216Asn
ENST00000439754.5:c.333G>C	ENSP00000403207.1:p.Lys111Asn
ENST00000449045.6:c.339G>C	ENSP00000392293.2:p.Lys113Asn
ENST00000527311.6:c.423G>C	ENSP00000436695.2:p.Lys141Asn
ENST00000529905.5:c.648G>C	ENSP00000432053.1:p.Lys216Asn
ENST00000530076.5:c.-10G>C	ENSP00000434007.1:n.-10G>C
ENST00000530704.5:c.*271G>C	ENSP00000431655.1:n.*271G>C
NM_000310.3:c.648G>C , LRG_690t1:c.648G>C	NP_000301.1:p.Lys216Asn
NM_001142604.1:c.339G>C	NP_001136076.1:p.Lys113Asn
XM_005271008.1:c.648G>C	XP_005271065.1:p.Lys216Asn
NM_001363695.1:c.648G>C	NP_001350624.1:p.Lys216Asn
NM_000310.4:c.648G>C MANE Select	NP_000301.1:p.Lys216Asn
NM_001142604.2:c.339G>C	NP_001136076.1:p.Lys113Asn
NM_001363695.2:c.648G>C	NP_001350624.1:p.Lys216Asn