Canonical Allele Identifier: CA343081

Gene: GNPTAB CHPT1

Linked Data

• ClinVar Variation Id: 38429
• ClinVar RCV Id: RCV000031986 ; RCV000032344 ; RCV000670953 ; RCV001193437 ; RCV003488353
• dbSNP Id: rs35333334
• gnomAD v2: 12-102142959-G-A
• gnomAD v4: 12-101749181-G-A
• MyVariant Identifiers: chr12:g.102142959G>A (hg19) ; chr12:g.101749181G>A (hg38)
• PubMed: PMID:16200072 ; PMID:16465621 ; PMID:16630736 ; PMID:20301728 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101749181G>A , CM000674.2:g.101749181G>A	GRCh38
NC_000012.11:g.102142959G>A , CM000674.1:g.102142959G>A	GRCh37
NC_000012.10:g.100667090G>A	NCBI36
NG_021243.1:g.86687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3613C>T (GNPTAB) MANE Select	ENSP00000299314.7:p.Arg1205Ter
ENST00000299314.11:c.3613C>T (GNPTAB)	ENSP00000299314.7:p.Arg1205Ter
ENST00000549738.5:c.511C>T (GNPTAB)	ENSP00000450161.1:n.511C>T
NM_024312.4:c.3613C>T (GNPTAB)	NP_077288.2:p.Arg1205Ter
XM_011538731.1:c.3532C>T (GNPTAB)	XP_011537033.1:p.Arg1178Ter
XM_011538731.2:c.3532C>T (GNPTAB)	XP_011537033.1:p.Arg1178Ter
XM_017019961.1:c.3397C>T (GNPTAB)	XP_016875450.1:p.Arg1133Ter
XM_017019962.2:c.2386C>T (GNPTAB)	XP_016875451.1:p.Arg796Ter
XR_001748817.1:n.3646G>A (CHPT1)
NM_024312.5:c.3613C>T (GNPTAB) MANE Select	NP_077288.2:p.Arg1205Ter