Canonical Allele Identifier: CA137288926

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506274C>T , CM000668.2:g.35506274C>T	GRCh38
NC_000006.11:g.35474051C>T , CM000668.1:g.35474051C>T	GRCh37
NC_000006.10:g.35582029C>T	NCBI36
NG_009077.1:g.11597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.828G>A MANE Select	ENSP00000229771.6:p.Ala276=
ENST00000229771.10:c.828G>A	ENSP00000229771.6:p.Ala276=
ENST00000322263.8:c.669G>A	ENSP00000319414.4:p.Ala223=
ENST00000373892.4:n.430G>A
ENST00000614066.4:c.823-101G>A	ENSP00000477534.1:n.823-101G>A
NM_001289395.1:c.669G>A	NP_001276324.1:p.Ala223=
NM_003322.4:c.828G>A	NP_003313.3:p.Ala276=
NM_003322.5:c.828G>A	NP_003313.3:p.Ala276=
NM_003322.6:c.828G>A MANE Select	NP_003313.3:p.Ala276=
NM_001289395.2:c.669G>A	NP_001276324.1:p.Ala223=