Canonical Allele Identifier: CA10623722

Gene: TULP1

Linked Data

• ClinVar Variation Id: 356477
• ClinVar RCV Id: RCV000277173 ; RCV000332253
• dbSNP Id: rs886061338
• gnomAD v4: 6-35512833-C-T
• MyVariant Identifiers: chr6:g.35480610C>T (hg19) ; chr6:g.35512833C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35512833C>T , CM000668.2:g.35512833C>T	GRCh38
NC_000006.11:g.35480610C>T , CM000668.1:g.35480610C>T	GRCh37
NC_000006.10:g.35588588C>T	NCBI36
NG_009077.1:g.5038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.26G>A MANE Select	ENSP00000229771.6:p.Arg9Gln
ENST00000229771.10:c.26G>A	ENSP00000229771.6:p.Arg9Gln
ENST00000322263.8:c.26G>A	ENSP00000319414.4:p.Arg9Gln
ENST00000428978.1:c.26G>A	ENSP00000406765.1:p.Arg9Gln
ENST00000614066.4:c.26G>A	ENSP00000477534.1:p.Arg9Gln
NM_001289395.1:c.26G>A	NP_001276324.1:p.Arg9Gln
NM_003322.4:c.26G>A	NP_003313.3:p.Arg9Gln
NM_003322.5:c.26G>A	NP_003313.3:p.Arg9Gln
NM_003322.6:c.26G>A MANE Select	NP_003313.3:p.Arg9Gln
NM_001289395.2:c.26G>A	NP_001276324.1:p.Arg9Gln