Canonical Allele Identifier: CA363779665

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35505771C>T , CM000668.2:g.35505771C>T	GRCh38
NC_000006.11:g.35473548C>T , CM000668.1:g.35473548C>T	GRCh37
NC_000006.10:g.35581526C>T	NCBI36
NG_009077.1:g.12100G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1082G>A MANE Select	NP_003313.3:p.Arg361Gln
ENST00000229771.11:c.1082G>A MANE Select	ENSP00000229771.6:p.Arg361Gln
NM_001289395.1:c.923G>A	NP_001276324.1:p.Arg308Gln
NM_001289395.2:c.923G>A	NP_001276324.1:p.Arg308Gln
NM_003322.4:c.1082G>A	NP_003313.3:p.Arg361Gln
NM_003322.5:c.1082G>A	NP_003313.3:p.Arg361Gln
ENST00000229771.10:c.1082G>A	ENSP00000229771.6:p.Arg361Gln
ENST00000322263.8:c.923G>A	ENSP00000319414.4:p.Arg308Gln
ENST00000373892.4:n.684G>A
ENST00000496434.5:n.99G>A
ENST00000614066.4:c.1076G>A	ENSP00000477534.1:p.Arg359Gln