Canonical Allele Identifier: CA363778539
Gene: TULP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500014C>T , CM000668.2:g.35500014C>T GRCh38
NC_000006.11:g.35467791C>T , CM000668.1:g.35467791C>T GRCh37
NC_000006.10:g.35575769C>T NCBI36
NG_009077.1:g.17857G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1462G>A MANE Select ENSP00000229771.6:p.Val488Ile
ENST00000229771.10:c.1462G>A ENSP00000229771.6:p.Val488Ile
ENST00000322263.8:c.1303G>A ENSP00000319414.4:p.Val435Ile
ENST00000614066.4:c.1456G>A ENSP00000477534.1:p.Val486Ile
NM_001289395.1:c.1303G>A NP_001276324.1:p.Val435Ile
NM_003322.4:c.1462G>A NP_003313.3:p.Val488Ile
NM_003322.5:c.1462G>A NP_003313.3:p.Val488Ile
NM_003322.6:c.1462G>A MANE Select NP_003313.3:p.Val488Ile
NM_001289395.2:c.1303G>A NP_001276324.1:p.Val435Ile