Canonical Allele Identifier: CA363778952

Gene: TULP1

Linked Data

• ClinVar Variation Id: 849054
• ClinVar RCV Id: RCV001052938
• dbSNP Id: rs1768804529
• gnomAD v4: 6-35500130-C-T
• COSMIC: COSM5157176
• MyVariant Identifiers: chr6:g.35467907C>T (hg19) ; chr6:g.35500130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500130C>T , CM000668.2:g.35500130C>T	GRCh38
NC_000006.11:g.35467907C>T , CM000668.1:g.35467907C>T	GRCh37
NC_000006.10:g.35575885C>T	NCBI36
NG_009077.1:g.17741G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1346G>A MANE Select	ENSP00000229771.6:p.Arg449His
ENST00000229771.10:c.1346G>A	ENSP00000229771.6:p.Arg449His
ENST00000322263.8:c.1187G>A	ENSP00000319414.4:p.Arg396His
ENST00000495781.1:n.522G>A
ENST00000614066.4:c.1340G>A	ENSP00000477534.1:p.Arg447His
NM_001289395.1:c.1187G>A	NP_001276324.1:p.Arg396His
NM_003322.4:c.1346G>A	NP_003313.3:p.Arg449His
NM_003322.5:c.1346G>A	NP_003313.3:p.Arg449His
NM_003322.6:c.1346G>A MANE Select	NP_003313.3:p.Arg449His
NM_001289395.2:c.1187G>A	NP_001276324.1:p.Arg396His