Canonical Allele Identifier: CA236254
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35503626C>T
GRCh38 chr6:g.35503626_35503627delinsTG
GRCh37 chr6:g.35471403C>T
GRCh37 chr6:g.35471403_35471404delinsTG
Revel Score:
ENST00000229771 (MANE Select) 0.962
ENST00000322263 0.962
gnomAD v2:
6:35471403 C / T
gnomAD v3:
6:35503626 C / T
gnomAD v4:
chr6-35503626-C-T
Joint Max Group AF 0.00001752 (AFR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002399 (AFR)
ClinVar Allele:
189010
ClinVar RCV:
RCV000171394
RCV001257784
RCV003888608
ClinVar Variation:
191207
dbSNP:
770045008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503626C>T , CM000668.2:g.35503626C>T GRCh38
NC_000006.11:g.35471403C>T , CM000668.1:g.35471403C>T GRCh37
NC_000006.10:g.35579381C>T NCBI36
NG_009077.1:g.14245G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1256G>A MANE Select ENSP00000229771.6:p.Arg419Gln
ENST00000229771.10:c.1256G>A ENSP00000229771.6:p.Arg419Gln
ENST00000322263.8:c.1097G>A ENSP00000319414.4:p.Arg366Gln
ENST00000495781.1:n.432G>A
ENST00000496434.5:n.273G>A
ENST00000614066.4:c.1250G>A ENSP00000477534.1:p.Arg417Gln
NM_001289395.1:c.1097G>A NP_001276324.1:p.Arg366Gln
NM_003322.4:c.1256G>A NP_003313.3:p.Arg419Gln
NM_003322.5:c.1256G>A NP_003313.3:p.Arg419Gln
NM_003322.6:c.1256G>A MANE Select NP_003313.3:p.Arg419Gln
NM_001289395.2:c.1097G>A NP_001276324.1:p.Arg366Gln
Search 100 bp 5'
Search 100 bp 3'