Canonical Allele Identifier: CA363778954
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973373
dbSNP Id: rs1480273410
gnomAD v2: 6-35467908-G-A
gnomAD v3: 6-35500131-G-A
gnomAD v4: 6-35500131-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500131G>A , CM000668.2:g.35500131G>A GRCh38
NC_000006.11:g.35467908G>A , CM000668.1:g.35467908G>A GRCh37
NC_000006.10:g.35575886G>A NCBI36
NG_009077.1:g.17740C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1345C>T MANE Select ENSP00000229771.6:p.Arg449Cys
ENST00000229771.10:c.1345C>T ENSP00000229771.6:p.Arg449Cys
ENST00000322263.8:c.1186C>T ENSP00000319414.4:p.Arg396Cys
ENST00000495781.1:n.521C>T
ENST00000614066.4:c.1339C>T ENSP00000477534.1:p.Arg447Cys
NM_001289395.1:c.1186C>T NP_001276324.1:p.Arg396Cys
NM_003322.4:c.1345C>T NP_003313.3:p.Arg449Cys
NM_003322.5:c.1345C>T NP_003313.3:p.Arg449Cys
NM_003322.6:c.1345C>T MANE Select NP_003313.3:p.Arg449Cys
NM_001289395.2:c.1186C>T NP_001276324.1:p.Arg396Cys