Canonical Allele Identifier: CA203606

Gene: TULP1

Linked Data

• ClinVar Variation Id: 99671
• ClinVar RCV Id: RCV000086077 ; RCV000180234 ; RCV000263443 ; RCV000318574 ; RCV000987690 ; RCV002243712 ; RCV003888489
• dbSNP Id: rs2064317
• ExAC: 6:35477032 A / G
• gnomAD v2: 6-35477032-A-G
• gnomAD v3: 6-35509255-A-G
• gnomAD v4: 6-35509255-A-G
• MyVariant Identifiers: chr6:g.35477032A>G (hg19) ; chr6:g.35509255A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509255A>G , CM000668.2:g.35509255A>G	GRCh38
NC_000006.11:g.35477032A>G , CM000668.1:g.35477032A>G	GRCh37
NC_000006.10:g.35585010A>G	NCBI36
NG_009077.1:g.8616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.776T>C MANE Select	ENSP00000229771.6:p.Ile259Thr
ENST00000229771.10:c.776T>C	ENSP00000229771.6:p.Ile259Thr
ENST00000322263.8:c.617T>C	ENSP00000319414.4:p.Ile206Thr
ENST00000373892.4:n.378T>C
ENST00000614066.4:c.776T>C	ENSP00000477534.1:p.Ile259Thr
NM_001289395.1:c.617T>C	NP_001276324.1:p.Ile206Thr
NM_003322.4:c.776T>C	NP_003313.3:p.Ile259Thr
NM_003322.5:c.776T>C	NP_003313.3:p.Ile259Thr
NM_003322.6:c.776T>C MANE Select	NP_003313.3:p.Ile259Thr
NM_001289395.2:c.617T>C	NP_001276324.1:p.Ile206Thr