Canonical Allele Identifier: CA363779410

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503816A>T , CM000668.2:g.35503816A>T	GRCh38
NC_000006.11:g.35471593A>T , CM000668.1:g.35471593A>T	GRCh37
NC_000006.10:g.35579571A>T	NCBI36
NG_009077.1:g.14055T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1145T>A MANE Select	ENSP00000229771.6:p.Phe382Tyr
ENST00000229771.10:c.1145T>A	ENSP00000229771.6:p.Phe382Tyr
ENST00000322263.8:c.986T>A	ENSP00000319414.4:p.Phe329Tyr
ENST00000373892.4:n.747T>A
ENST00000495781.1:n.321T>A
ENST00000496434.5:n.162T>A
ENST00000614066.4:c.1139T>A	ENSP00000477534.1:p.Phe380Tyr
NM_001289395.1:c.986T>A	NP_001276324.1:p.Phe329Tyr
NM_003322.4:c.1145T>A	NP_003313.3:p.Phe382Tyr
NM_003322.5:c.1145T>A	NP_003313.3:p.Phe382Tyr
NM_003322.6:c.1145T>A MANE Select	NP_003313.3:p.Phe382Tyr
NM_001289395.2:c.986T>A	NP_001276324.1:p.Phe329Tyr