Canonical Allele Identifier: CA259775

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35505751C>A , CM000668.2:g.35505751C>A	GRCh38
NC_000006.11:g.35473528C>A , CM000668.1:g.35473528C>A	GRCh37
NC_000006.10:g.35581506C>A	NCBI36
NG_009077.1:g.12120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1102G>T MANE Select	ENSP00000229771.6:p.Gly368Trp
ENST00000229771.10:c.1102G>T	ENSP00000229771.6:p.Gly368Trp
ENST00000322263.8:c.943G>T	ENSP00000319414.4:p.Gly315Trp
ENST00000373892.4:n.704G>T
ENST00000496434.5:n.119G>T
ENST00000614066.4:c.1096G>T	ENSP00000477534.1:p.Gly366Trp
NM_001289395.1:c.943G>T	NP_001276324.1:p.Gly315Trp
NM_003322.4:c.1102G>T	NP_003313.3:p.Gly368Trp
NM_003322.5:c.1102G>T	NP_003313.3:p.Gly368Trp
NM_003322.6:c.1102G>T MANE Select	NP_003313.3:p.Gly368Trp
NM_001289395.2:c.943G>T	NP_001276324.1:p.Gly315Trp