Canonical Allele Identifier: CA363783033

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35510873G>A , CM000668.2:g.35510873G>A	GRCh38
NC_000006.11:g.35478650G>A , CM000668.1:g.35478650G>A	GRCh37
NC_000006.10:g.35586628G>A	NCBI36
NG_009077.1:g.6998C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.487C>T MANE Select	NP_003313.3:p.Gln163Ter
ENST00000229771.11:c.487C>T MANE Select	ENSP00000229771.6:p.Gln163Ter
NM_001289395.1:c.328C>T	NP_001276324.1:p.Gln110Ter
NM_001289395.2:c.328C>T	NP_001276324.1:p.Gln110Ter
NM_003322.4:c.487C>T	NP_003313.3:p.Gln163Ter
NM_003322.5:c.487C>T	NP_003313.3:p.Gln163Ter
ENST00000229771.10:c.487C>T	ENSP00000229771.6:p.Gln163Ter
ENST00000322263.8:c.328C>T	ENSP00000319414.4:p.Gln110Ter
ENST00000373892.4:n.320+775C>T
ENST00000428978.1:c.343C>T	ENSP00000406765.1:p.Gln115Ter
ENST00000448446.2:n.392C>T
ENST00000614066.4:c.487C>T	ENSP00000477534.1:p.Gln163Ter