Canonical Allele Identifier: CA21021263

Gene: PPT1

Linked Data

• dbSNP Id: rs1028908296
• gnomAD v2: 1-40562926-T-G
• gnomAD v3: 1-40097254-T-G
• gnomAD v4: 1-40097254-T-G
• MyVariant Identifiers: chr1:g.40562926T>G (hg19) ; chr1:g.40097254T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097254T>G , CM000663.2:g.40097254T>G	GRCh38
NC_000001.10:g.40562926T>G , CM000663.1:g.40562926T>G	GRCh37
NC_000001.9:g.40335513T>G	NCBI36
NG_009192.1:g.5217A>C , LRG_690:g.5217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449045.7:c.-16A>C	ENSP00000392293.2:n.-16A>C
ENST00000641319.1:c.-16A>C	ENSP00000493128.1:n.-16A>C
ENST00000641691.1:c.-16A>C	ENSP00000492910.1:n.-16A>C
ENST00000433473.7:c.-16A>C	ENSP00000394863.3:n.-16A>C
NM_000310.3:c.-16A>C , LRG_690t1:c.-16A>C	NP_000301.1:n.-16A>C
NM_001142604.1:c.-16A>C	NP_001136076.1:n.-16A>C
XM_005271008.1:c.-16A>C	XP_005271065.1:n.-16A>C
NM_001363695.1:c.-16A>C	NP_001350624.1:n.-16A>C