Canonical Allele Identifier: CA363778505
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467782A>T (hg19) chr6:g.35500005A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500005A>T , CM000668.2:g.35500005A>T GRCh38
NC_000006.11:g.35467782A>T , CM000668.1:g.35467782A>T GRCh37
NC_000006.10:g.35575760A>T NCBI36
NG_009077.1:g.17866T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1471T>A MANE Select ENSP00000229771.6:p.Phe491Ile
ENST00000229771.10:c.1471T>A ENSP00000229771.6:p.Phe491Ile
ENST00000322263.8:c.1312T>A ENSP00000319414.4:p.Phe438Ile
ENST00000614066.4:c.1465T>A ENSP00000477534.1:p.Phe489Ile
NM_001289395.1:c.1312T>A NP_001276324.1:p.Phe438Ile
NM_003322.4:c.1471T>A NP_003313.3:p.Phe491Ile
NM_003322.5:c.1471T>A NP_003313.3:p.Phe491Ile
NM_003322.6:c.1471T>A MANE Select NP_003313.3:p.Phe491Ile
NM_001289395.2:c.1312T>A NP_001276324.1:p.Phe438Ile
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