Canonical Allele Identifier: CA3772753
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 356467
ClinVar RCV Id: RCV000306445 RCV000365828 RCV001227879
dbSNP Id: rs140460892
ExAC: 6:35473904 C / T
gnomAD v2: 6-35473904-C-T
gnomAD v3: 6-35506127-C-T
gnomAD v4: 6-35506127-C-T
MyVariant Identifiers: chr6:g.35473904C>T (hg19) chr6:g.35506127C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35506127C>T , CM000668.2:g.35506127C>T GRCh38
NC_000006.11:g.35473904C>T , CM000668.1:g.35473904C>T GRCh37
NC_000006.10:g.35581882C>T NCBI36
NG_009077.1:g.11744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.875G>A MANE Select ENSP00000229771.6:p.Arg292Gln
ENST00000229771.10:c.875G>A ENSP00000229771.6:p.Arg292Gln
ENST00000322263.8:c.716G>A ENSP00000319414.4:p.Arg239Gln
ENST00000373892.4:n.477G>A
ENST00000614066.4:c.869G>A ENSP00000477534.1:p.Arg290Gln
NM_001289395.1:c.716G>A NP_001276324.1:p.Arg239Gln
NM_003322.4:c.875G>A NP_003313.3:p.Arg292Gln
NM_003322.5:c.875G>A NP_003313.3:p.Arg292Gln
NM_003322.6:c.875G>A MANE Select NP_003313.3:p.Arg292Gln
NM_001289395.2:c.716G>A NP_001276324.1:p.Arg239Gln
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