Canonical Allele Identifier: CA2678414947

Gene: TULP1

Linked Data

• gnomAD v4: 6-35503626-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503631dup , CM000668.2:g.35503631dup	GRCh38
NC_000006.11:g.35471408dup , CM000668.1:g.35471408dup	GRCh37
NC_000006.10:g.35579386dup	NCBI36
NG_009077.1:g.14244dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1255dup MANE Select	ENSP00000229771.6:p.Arg419ProfsTer25
ENST00000229771.10:c.1255dup	ENSP00000229771.6:p.Arg419ProfsTer25
ENST00000322263.8:c.1096dup	ENSP00000319414.4:p.Arg366ProfsTer25
ENST00000495781.1:n.431dup
ENST00000496434.5:n.272dup
ENST00000614066.4:c.1249dup	ENSP00000477534.1:p.Arg417ProfsTer25
NM_001289395.1:c.1096dup	NP_001276324.1:p.Arg366ProfsTer25
NM_003322.4:c.1255dup	NP_003313.3:p.Arg419ProfsTer25
NM_003322.5:c.1255dup	NP_003313.3:p.Arg419ProfsTer25
NM_003322.6:c.1255dup MANE Select	NP_003313.3:p.Arg419ProfsTer25
NM_001289395.2:c.1096dup	NP_001276324.1:p.Arg366ProfsTer25