Canonical Allele Identifier: CA363782859

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509860C>A , CM000668.2:g.35509860C>A	GRCh38
NC_000006.11:g.35477637C>A , CM000668.1:g.35477637C>A	GRCh37
NC_000006.10:g.35585615C>A	NCBI36
NG_009077.1:g.8011G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.568G>T MANE Select	NP_003313.3:p.Glu190Ter
ENST00000229771.11:c.568G>T MANE Select	ENSP00000229771.6:p.Glu190Ter
NM_001289395.1:c.409G>T	NP_001276324.1:p.Glu137Ter
NM_001289395.2:c.409G>T	NP_001276324.1:p.Glu137Ter
NM_003322.4:c.568G>T	NP_003313.3:p.Glu190Ter
NM_003322.5:c.568G>T	NP_003313.3:p.Glu190Ter
ENST00000229771.10:c.568G>T	ENSP00000229771.6:p.Glu190Ter
ENST00000322263.8:c.409G>T	ENSP00000319414.4:p.Glu137Ter
ENST00000373892.4:n.321-548G>T
ENST00000428978.1:c.424G>T	ENSP00000406765.1:p.Glu142Ter
ENST00000614066.4:c.568G>T	ENSP00000477534.1:p.Glu190Ter