Canonical Allele Identifier: CA221974
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35509234C>A , CM000668.2:g.35509234C>A GRCh38
NC_000006.11:g.35477011C>A , CM000668.1:g.35477011C>A GRCh37
NC_000006.10:g.35584989C>A NCBI36
NG_009077.1:g.8637G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.797G>T MANE Select ENSP00000229771.6:p.Gly266Val
ENST00000229771.10:c.797G>T ENSP00000229771.6:p.Gly266Val
ENST00000322263.8:c.638G>T ENSP00000319414.4:p.Gly213Val
ENST00000373892.4:n.399G>T
ENST00000614066.4:c.797G>T ENSP00000477534.1:p.Gly266Val
NM_001289395.1:c.638G>T NP_001276324.1:p.Gly213Val
NM_003322.4:c.797G>T NP_003313.3:p.Gly266Val
NM_003322.5:c.797G>T NP_003313.3:p.Gly266Val
NM_003322.6:c.797G>T MANE Select NP_003313.3:p.Gly266Val
NM_001289395.2:c.638G>T NP_001276324.1:p.Gly213Val