Canonical Allele Identifier: CA363778538
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500013-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500013A>T , CM000668.2:g.35500013A>T GRCh38
NC_000006.11:g.35467790A>T , CM000668.1:g.35467790A>T GRCh37
NC_000006.10:g.35575768A>T NCBI36
NG_009077.1:g.17858T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1463T>A MANE Select ENSP00000229771.6:p.Val488Asp
ENST00000229771.10:c.1463T>A ENSP00000229771.6:p.Val488Asp
ENST00000322263.8:c.1304T>A ENSP00000319414.4:p.Val435Asp
ENST00000614066.4:c.1457T>A ENSP00000477534.1:p.Val486Asp
NM_001289395.1:c.1304T>A NP_001276324.1:p.Val435Asp
NM_003322.4:c.1463T>A NP_003313.3:p.Val488Asp
NM_003322.5:c.1463T>A NP_003313.3:p.Val488Asp
NM_003322.6:c.1463T>A MANE Select NP_003313.3:p.Val488Asp
NM_001289395.2:c.1304T>A NP_001276324.1:p.Val435Asp