Canonical Allele Identifier: CA363780231

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506071G>A , CM000668.2:g.35506071G>A	GRCh38
NC_000006.11:g.35473848G>A , CM000668.1:g.35473848G>A	GRCh37
NC_000006.10:g.35581826G>A	NCBI36
NG_009077.1:g.11800C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.931C>T MANE Select	NP_003313.3:p.Arg311Trp
ENST00000229771.11:c.931C>T MANE Select	ENSP00000229771.6:p.Arg311Trp
NM_001289395.1:c.772C>T	NP_001276324.1:p.Arg258Trp
NM_001289395.2:c.772C>T	NP_001276324.1:p.Arg258Trp
NM_003322.4:c.931C>T	NP_003313.3:p.Arg311Trp
NM_003322.5:c.931C>T	NP_003313.3:p.Arg311Trp
ENST00000229771.10:c.931C>T	ENSP00000229771.6:p.Arg311Trp
ENST00000322263.8:c.772C>T	ENSP00000319414.4:p.Arg258Trp
ENST00000373892.4:n.533C>T
ENST00000614066.4:c.925C>T	ENSP00000477534.1:p.Arg309Trp