Canonical Allele Identifier: CA363778955
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500131-G-C
MyVariant Identifiers: chr6:g.35467908G>C (hg19) chr6:g.35500131G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1345C>G MANE Select ENSP00000229771.6:p.Arg449Gly
ENST00000229771.10:c.1345C>G ENSP00000229771.6:p.Arg449Gly
ENST00000322263.8:c.1186C>G ENSP00000319414.4:p.Arg396Gly
ENST00000495781.1:n.521C>G
ENST00000614066.4:c.1339C>G ENSP00000477534.1:p.Arg447Gly
NM_001289395.1:c.1186C>G NP_001276324.1:p.Arg396Gly
NM_003322.4:c.1345C>G NP_003313.3:p.Arg449Gly
NM_003322.5:c.1345C>G NP_003313.3:p.Arg449Gly
NM_003322.6:c.1345C>G MANE Select NP_003313.3:p.Arg449Gly
NM_001289395.2:c.1186C>G NP_001276324.1:p.Arg396Gly
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