Canonical Allele Identifier: CA363778716
Gene: TULP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500053A>C , CM000668.2:g.35500053A>C GRCh38
NC_000006.11:g.35467830A>C , CM000668.1:g.35467830A>C GRCh37
NC_000006.10:g.35575808A>C NCBI36
NG_009077.1:g.17818T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1423T>G MANE Select ENSP00000229771.6:p.Tyr475Asp
ENST00000229771.10:c.1423T>G ENSP00000229771.6:p.Tyr475Asp
ENST00000322263.8:c.1264T>G ENSP00000319414.4:p.Tyr422Asp
ENST00000614066.4:c.1417T>G ENSP00000477534.1:p.Tyr473Asp
NM_001289395.1:c.1264T>G NP_001276324.1:p.Tyr422Asp
NM_003322.4:c.1423T>G NP_003313.3:p.Tyr475Asp
NM_003322.5:c.1423T>G NP_003313.3:p.Tyr475Asp
NM_003322.6:c.1423T>G MANE Select NP_003313.3:p.Tyr475Asp
NM_001289395.2:c.1264T>G NP_001276324.1:p.Tyr422Asp