Canonical Allele Identifier: CA227709

Gene: TULP1

Linked Data

• ClinVar Variation Id: 99666
• ClinVar RCV Id: RCV000086072 ; RCV000787923 ; RCV001073440 ; RCV002228330 ; RCV001376339 ; RCV002483168
• dbSNP Id: rs281865171
• ExAC: 6:35466243 G / T
• gnomAD v2: 6-35466243-G-T
• gnomAD v3: 6-35498466-G-T
• gnomAD v4: 6-35498466-G-T
• MyVariant Identifiers: chr6:g.35466243G>T (hg19) ; chr6:g.35498466G>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35498466G>T , CM000668.2:g.35498466G>T	GRCh38
NC_000006.11:g.35466243G>T , CM000668.1:g.35466243G>T	GRCh37
NC_000006.10:g.35574221G>T	NCBI36
NG_009077.1:g.19405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1496-6C>A MANE Select	ENSP00000229771.6:n.1496-6C>A
ENST00000229771.10:c.1496-6C>A	ENSP00000229771.6:n.1496-6C>A
ENST00000322263.8:c.1337-6C>A	ENSP00000319414.4:n.1337-6C>A
ENST00000614066.4:c.1490-6C>A	ENSP00000477534.1:n.1490-6C>A
NM_001289395.1:c.1337-6C>A	NP_001276324.1:n.1337-6C>A
NM_003322.4:c.1496-6C>A	NP_003313.3:n.1496-6C>A
NM_003322.5:c.1496-6C>A	NP_003313.3:n.1496-6C>A
NM_003322.6:c.1496-6C>A MANE Select	NP_003313.3:n.1496-6C>A
NM_001289395.2:c.1337-6C>A	NP_001276324.1:n.1337-6C>A