Canonical Allele Identifier: CA3772568
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 356466
ClinVar RCV Id: RCV000350627 RCV000398421 RCV000945421
dbSNP Id: rs61734562
ExAC: 6:35467912 C / T
gnomAD v2: 6-35467912-C-T
gnomAD v3: 6-35500135-C-T
gnomAD v4: 6-35500135-C-T
MyVariant Identifiers: chr6:g.35467912C>T (hg19) chr6:g.35500135C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500135C>T , CM000668.2:g.35500135C>T GRCh38
NC_000006.11:g.35467912C>T , CM000668.1:g.35467912C>T GRCh37
NC_000006.10:g.35575890C>T NCBI36
NG_009077.1:g.17736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1341G>A MANE Select ENSP00000229771.6:p.Leu447=
ENST00000229771.10:c.1341G>A ENSP00000229771.6:p.Leu447=
ENST00000322263.8:c.1182G>A ENSP00000319414.4:p.Leu394=
ENST00000495781.1:n.517G>A
ENST00000614066.4:c.1335G>A ENSP00000477534.1:p.Leu445=
NM_001289395.1:c.1182G>A NP_001276324.1:p.Leu394=
NM_003322.4:c.1341G>A NP_003313.3:p.Leu447=
NM_003322.5:c.1341G>A NP_003313.3:p.Leu447=
NM_003322.6:c.1341G>A MANE Select NP_003313.3:p.Leu447=
NM_001289395.2:c.1182G>A NP_001276324.1:p.Leu394=
Search 100 bp 5'
Search 100 bp 3'