Canonical Allele Identifier: CA363778962

Gene: TULP1

Linked Data

• ClinVar Variation Id: 3184857
• ClinVar RCV Id: RCV004481726
• gnomAD v4: 6-35500134-C-T
• MyVariant Identifiers: chr6:g.35467911C>T (hg19) ; chr6:g.35500134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500134C>T , CM000668.2:g.35500134C>T	GRCh38
NC_000006.11:g.35467911C>T , CM000668.1:g.35467911C>T	GRCh37
NC_000006.10:g.35575889C>T	NCBI36
NG_009077.1:g.17737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1342G>A MANE Select	ENSP00000229771.6:p.Val448Met
ENST00000229771.10:c.1342G>A	ENSP00000229771.6:p.Val448Met
ENST00000322263.8:c.1183G>A	ENSP00000319414.4:p.Val395Met
ENST00000495781.1:n.518G>A
ENST00000614066.4:c.1336G>A	ENSP00000477534.1:p.Val446Met
NM_001289395.1:c.1183G>A	NP_001276324.1:p.Val395Met
NM_003322.4:c.1342G>A	NP_003313.3:p.Val448Met
NM_003322.5:c.1342G>A	NP_003313.3:p.Val448Met
NM_003322.6:c.1342G>A MANE Select	NP_003313.3:p.Val448Met
NM_001289395.2:c.1183G>A	NP_001276324.1:p.Val395Met