Canonical Allele Identifier: CA3772614
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409096
ClinVar RCV Id: RCV001913463
dbSNP Id: rs765597804
ExAC: 6:35471412 C / T
gnomAD v2: 6-35471412-C-T
gnomAD v3: 6-35503635-C-T
gnomAD v4: 6-35503635-C-T
MyVariant Identifiers: chr6:g.35471412C>T (hg19) chr6:g.35503635C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503635C>T , CM000668.2:g.35503635C>T GRCh38
NC_000006.11:g.35471412C>T , CM000668.1:g.35471412C>T GRCh37
NC_000006.10:g.35579390C>T NCBI36
NG_009077.1:g.14236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1247G>A MANE Select ENSP00000229771.6:p.Arg416His
ENST00000229771.10:c.1247G>A ENSP00000229771.6:p.Arg416His
ENST00000322263.8:c.1088G>A ENSP00000319414.4:p.Arg363His
ENST00000495781.1:n.423G>A
ENST00000496434.5:n.264G>A
ENST00000614066.4:c.1241G>A ENSP00000477534.1:p.Arg414His
NM_001289395.1:c.1088G>A NP_001276324.1:p.Arg363His
NM_003322.4:c.1247G>A NP_003313.3:p.Arg416His
NM_003322.5:c.1247G>A NP_003313.3:p.Arg416His
NM_003322.6:c.1247G>A MANE Select NP_003313.3:p.Arg416His
NM_001289395.2:c.1088G>A NP_001276324.1:p.Arg363His
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