Canonical Allele Identifier: CA363778551
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467794A>C (hg19) chr6:g.35500017A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500017A>C , CM000668.2:g.35500017A>C GRCh38
NC_000006.11:g.35467794A>C , CM000668.1:g.35467794A>C GRCh37
NC_000006.10:g.35575772A>C NCBI36
NG_009077.1:g.17854T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1459T>G MANE Select ENSP00000229771.6:p.Ser487Ala
ENST00000229771.10:c.1459T>G ENSP00000229771.6:p.Ser487Ala
ENST00000322263.8:c.1300T>G ENSP00000319414.4:p.Ser434Ala
ENST00000614066.4:c.1453T>G ENSP00000477534.1:p.Ser485Ala
NM_001289395.1:c.1300T>G NP_001276324.1:p.Ser434Ala
NM_003322.4:c.1459T>G NP_003313.3:p.Ser487Ala
NM_003322.5:c.1459T>G NP_003313.3:p.Ser487Ala
NM_003322.6:c.1459T>G MANE Select NP_003313.3:p.Ser487Ala
NM_001289395.2:c.1300T>G NP_001276324.1:p.Ser434Ala
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