Canonical Allele Identifier: CA363778934
Gene: TULP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500123C>A , CM000668.2:g.35500123C>A GRCh38
NC_000006.11:g.35467900C>A , CM000668.1:g.35467900C>A GRCh37
NC_000006.10:g.35575878C>A NCBI36
NG_009077.1:g.17748G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1353G>T MANE Select ENSP00000229771.6:p.Gln451His
ENST00000229771.10:c.1353G>T ENSP00000229771.6:p.Gln451His
ENST00000322263.8:c.1194G>T ENSP00000319414.4:p.Gln398His
ENST00000495781.1:n.529G>T
ENST00000614066.4:c.1347G>T ENSP00000477534.1:p.Gln449His
NM_001289395.1:c.1194G>T NP_001276324.1:p.Gln398His
NM_003322.4:c.1353G>T NP_003313.3:p.Gln451His
NM_003322.5:c.1353G>T NP_003313.3:p.Gln451His
NM_003322.6:c.1353G>T MANE Select NP_003313.3:p.Gln451His
NM_001289395.2:c.1194G>T NP_001276324.1:p.Gln398His