Canonical Allele Identifier: CA2840855586
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500063dup , CM000668.2:g.35500063dup GRCh38
NC_000006.11:g.35467840dup , CM000668.1:g.35467840dup GRCh37
NC_000006.10:g.35575818dup NCBI36
NG_009077.1:g.17808dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1413dup MANE Select ENSP00000229771.6:p.Ser472GlnfsTer26
ENST00000229771.10:c.1413dup ENSP00000229771.6:p.Ser472GlnfsTer26
ENST00000322263.8:c.1254dup ENSP00000319414.4:p.Ser419GlnfsTer26
ENST00000614066.4:c.1407dup ENSP00000477534.1:p.Ser470GlnfsTer26
NM_001289395.1:c.1254dup NP_001276324.1:p.Ser419GlnfsTer26
NM_003322.4:c.1413dup NP_003313.3:p.Ser472GlnfsTer26
NM_003322.5:c.1413dup NP_003313.3:p.Ser472GlnfsTer26
NM_003322.6:c.1413dup MANE Select NP_003313.3:p.Ser472GlnfsTer26
NM_001289395.2:c.1254dup NP_001276324.1:p.Ser419GlnfsTer26