Canonical Allele Identifier: CA227706

Gene: TULP1

Linked Data

• ClinVar Variation Id: 99664
• ClinVar RCV Id: RCV000086070 ; RCV000591717 ; RCV001156199 ; RCV001156200
• dbSNP Id: rs141980901
• ExAC: 6:35467767 C / T
• gnomAD v2: 6-35467767-C-T
• gnomAD v3: 6-35499990-C-T
• gnomAD v4: 6-35499990-C-T
• MyVariant Identifiers: chr6:g.35467767C>T (hg19) ; chr6:g.35499990C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35499990C>T , CM000668.2:g.35499990C>T	GRCh38
NC_000006.11:g.35467767C>T , CM000668.1:g.35467767C>T	GRCh37
NC_000006.10:g.35575745C>T	NCBI36
NG_009077.1:g.17881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1486G>A MANE Select	ENSP00000229771.6:p.Ala496Thr
ENST00000229771.10:c.1486G>A	ENSP00000229771.6:p.Ala496Thr
ENST00000322263.8:c.1327G>A	ENSP00000319414.4:p.Ala443Thr
ENST00000614066.4:c.1480G>A	ENSP00000477534.1:p.Ala494Thr
NM_001289395.1:c.1327G>A	NP_001276324.1:p.Ala443Thr
NM_003322.4:c.1486G>A	NP_003313.3:p.Ala496Thr
NM_003322.5:c.1486G>A	NP_003313.3:p.Ala496Thr
NM_003322.6:c.1486G>A MANE Select	NP_003313.3:p.Ala496Thr
NM_001289395.2:c.1327G>A	NP_001276324.1:p.Ala443Thr