Canonical Allele Identifier: CA363778660
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467817A>C (hg19) chr6:g.35500040A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500040A>C , CM000668.2:g.35500040A>C GRCh38
NC_000006.11:g.35467817A>C , CM000668.1:g.35467817A>C GRCh37
NC_000006.10:g.35575795A>C NCBI36
NG_009077.1:g.17831T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1436T>G MANE Select ENSP00000229771.6:p.Phe479Cys
ENST00000229771.10:c.1436T>G ENSP00000229771.6:p.Phe479Cys
ENST00000322263.8:c.1277T>G ENSP00000319414.4:p.Phe426Cys
ENST00000614066.4:c.1430T>G ENSP00000477534.1:p.Phe477Cys
NM_001289395.1:c.1277T>G NP_001276324.1:p.Phe426Cys
NM_003322.4:c.1436T>G NP_003313.3:p.Phe479Cys
NM_003322.5:c.1436T>G NP_003313.3:p.Phe479Cys
NM_003322.6:c.1436T>G MANE Select NP_003313.3:p.Phe479Cys
NM_001289395.2:c.1277T>G NP_001276324.1:p.Phe426Cys
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