Canonical Allele Identifier: CA3772786

Gene: TULP1

Linked Data

• ClinVar Variation Id: 356468
• ClinVar RCV Id: RCV000267212 ; RCV000361884 ; RCV001454626
• dbSNP Id: rs372183095
• ExAC: 6:35474064 C / T
• gnomAD v2: 6-35474064-C-T
• gnomAD v3: 6-35506287-C-T
• gnomAD v4: 6-35506287-C-T
• MyVariant Identifiers: chr6:g.35474064C>T (hg19) ; chr6:g.35506287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506287C>T , CM000668.2:g.35506287C>T	GRCh38
NC_000006.11:g.35474064C>T , CM000668.1:g.35474064C>T	GRCh37
NC_000006.10:g.35582042C>T	NCBI36
NG_009077.1:g.11584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.823-8G>A MANE Select	ENSP00000229771.6:n.823-8G>A
ENST00000229771.10:c.823-8G>A	ENSP00000229771.6:n.823-8G>A
ENST00000322263.8:c.664-8G>A	ENSP00000319414.4:n.664-8G>A
ENST00000373892.4:n.425-8G>A
ENST00000614066.4:c.823-114G>A	ENSP00000477534.1:n.823-114G>A
NM_001289395.1:c.664-8G>A	NP_001276324.1:n.664-8G>A
NM_003322.4:c.823-8G>A	NP_003313.3:n.823-8G>A
NM_003322.5:c.823-8G>A	NP_003313.3:n.823-8G>A
NM_003322.6:c.823-8G>A MANE Select	NP_003313.3:n.823-8G>A
NM_001289395.2:c.664-8G>A	NP_001276324.1:n.664-8G>A