Canonical Allele Identifier: CA363778947
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 812438
ClinVar RCV Id: RCV001003239 RCV003558630
dbSNP Id: rs1581736099
gnomAD v3: 6-35500127-C-T
gnomAD v4: 6-35500127-C-T
MyVariant Identifiers: chr6:g.35467904C>T (hg19) chr6:g.35500127C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500127C>T , CM000668.2:g.35500127C>T GRCh38
NC_000006.11:g.35467904C>T , CM000668.1:g.35467904C>T GRCh37
NC_000006.10:g.35575882C>T NCBI36
NG_009077.1:g.17744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1349G>A MANE Select ENSP00000229771.6:p.Trp450Ter
ENST00000229771.10:c.1349G>A ENSP00000229771.6:p.Trp450Ter
ENST00000322263.8:c.1190G>A ENSP00000319414.4:p.Trp397Ter
ENST00000495781.1:n.525G>A
ENST00000614066.4:c.1343G>A ENSP00000477534.1:p.Trp448Ter
NM_001289395.1:c.1190G>A NP_001276324.1:p.Trp397Ter
NM_003322.4:c.1349G>A NP_003313.3:p.Trp450Ter
NM_003322.5:c.1349G>A NP_003313.3:p.Trp450Ter
NM_003322.6:c.1349G>A MANE Select NP_003313.3:p.Trp450Ter
NM_001289395.2:c.1190G>A NP_001276324.1:p.Trp397Ter
Search 100 bp 5'
Search 100 bp 3'