Canonical Allele Identifier: CA449942306
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500012-G-T
MyVariant Identifiers: chr6:g.35467789G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500012G>T , CM000668.2:g.35500012G>T GRCh38
NC_000006.11:g.35467789G>T , CM000668.1:g.35467789G>T GRCh37
NC_000006.10:g.35575767G>T NCBI36
NG_009077.1:g.17859C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1464C>A MANE Select ENSP00000229771.6:p.Val488=
ENST00000229771.10:c.1464C>A ENSP00000229771.6:p.Val488=
ENST00000322263.8:c.1305C>A ENSP00000319414.4:p.Val435=
ENST00000614066.4:c.1458C>A ENSP00000477534.1:p.Val486=
NM_001289395.1:c.1305C>A NP_001276324.1:p.Val435=
NM_003322.4:c.1464C>A NP_003313.3:p.Val488=
NM_003322.5:c.1464C>A NP_003313.3:p.Val488=
NM_003322.6:c.1464C>A MANE Select NP_003313.3:p.Val488=
NM_001289395.2:c.1305C>A NP_001276324.1:p.Val435=
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