Canonical Allele Identifier: CA363778970
Gene: TULP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500139A>T , CM000668.2:g.35500139A>T GRCh38
NC_000006.11:g.35467916A>T , CM000668.1:g.35467916A>T GRCh37
NC_000006.10:g.35575894A>T NCBI36
NG_009077.1:g.17732T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1337T>A MANE Select ENSP00000229771.6:p.Leu446Gln
ENST00000229771.10:c.1337T>A ENSP00000229771.6:p.Leu446Gln
ENST00000322263.8:c.1178T>A ENSP00000319414.4:p.Leu393Gln
ENST00000495781.1:n.513T>A
ENST00000614066.4:c.1331T>A ENSP00000477534.1:p.Leu444Gln
NM_001289395.1:c.1178T>A NP_001276324.1:p.Leu393Gln
NM_003322.4:c.1337T>A NP_003313.3:p.Leu446Gln
NM_003322.5:c.1337T>A NP_003313.3:p.Leu446Gln
NM_003322.6:c.1337T>A MANE Select NP_003313.3:p.Leu446Gln
NM_001289395.2:c.1178T>A NP_001276324.1:p.Leu393Gln