Canonical Allele Identifier: CA363784635

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35511759G>A , CM000668.2:g.35511759G>A	GRCh38
NC_000006.11:g.35479536G>A , CM000668.1:g.35479536G>A	GRCh37
NC_000006.10:g.35587514G>A	NCBI36
NG_009077.1:g.6112C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.238C>T MANE Select	NP_003313.3:p.Gln80Ter
ENST00000229771.11:c.238C>T MANE Select	ENSP00000229771.6:p.Gln80Ter
NM_001289395.1:c.190+421C>T	NP_001276324.1:n.190+421C>T
NM_001289395.2:c.190+421C>T	NP_001276324.1:n.190+421C>T
NM_003322.4:c.238C>T	NP_003313.3:p.Gln80Ter
NM_003322.5:c.238C>T	NP_003313.3:p.Gln80Ter
ENST00000229771.10:c.238C>T	ENSP00000229771.6:p.Gln80Ter
ENST00000322263.8:c.190+421C>T	ENSP00000319414.4:n.190+421C>T
ENST00000373892.4:n.209C>T
ENST00000428978.1:c.190+421C>T	ENSP00000406765.1:n.190+421C>T
ENST00000448446.2:n.143C>T
ENST00000614066.4:c.238C>T	ENSP00000477534.1:p.Gln80Ter