Canonical Allele Identifier: CA449942483
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099582
ClinVar RCV Id: RCV003021788
dbSNP Id: rs1440330475
gnomAD v2: 6-35467918-G-C
gnomAD v4: 6-35500141-G-C
MyVariant Identifiers: chr6:g.35467918G>C (hg19) chr6:g.35500141G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500141G>C , CM000668.2:g.35500141G>C GRCh38
NC_000006.11:g.35467918G>C , CM000668.1:g.35467918G>C GRCh37
NC_000006.10:g.35575896G>C NCBI36
NG_009077.1:g.17730C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1335C>G MANE Select ENSP00000229771.6:p.Gly445=
ENST00000229771.10:c.1335C>G ENSP00000229771.6:p.Gly445=
ENST00000322263.8:c.1176C>G ENSP00000319414.4:p.Gly392=
ENST00000495781.1:n.511C>G
ENST00000614066.4:c.1329C>G ENSP00000477534.1:p.Gly443=
NM_001289395.1:c.1176C>G NP_001276324.1:p.Gly392=
NM_003322.4:c.1335C>G NP_003313.3:p.Gly445=
NM_003322.5:c.1335C>G NP_003313.3:p.Gly445=
NM_003322.6:c.1335C>G MANE Select NP_003313.3:p.Gly445=
NM_001289395.2:c.1176C>G NP_001276324.1:p.Gly392=
Search 100 bp 5'
Search 100 bp 3'