Canonical Allele Identifier: CA566488206

Gene: TULP1

Linked Data

• ClinVar Variation Id: 2761667
• ClinVar RCV Id: RCV003567737
• dbSNP Id: rs1290415486
• gnomAD v2: 6-35471326-C-T
• gnomAD v3: 6-35503549-C-T
• gnomAD v4: 6-35503549-C-T
• MyVariant Identifiers: chr6:g.35471326C>T (hg19) ; chr6:g.35503549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503549C>T , CM000668.2:g.35503549C>T	GRCh38
NC_000006.11:g.35471326C>T , CM000668.1:g.35471326C>T	GRCh37
NC_000006.10:g.35579304C>T	NCBI36
NG_009077.1:g.14322G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1323+10G>A MANE Select	ENSP00000229771.6:n.1323+10G>A
ENST00000229771.10:c.1323+10G>A	ENSP00000229771.6:n.1323+10G>A
ENST00000322263.8:c.1164+10G>A	ENSP00000319414.4:n.1164+10G>A
ENST00000495781.1:n.499+10G>A
ENST00000496434.5:n.350G>A
ENST00000614066.4:c.1317+10G>A	ENSP00000477534.1:n.1317+10G>A
NM_001289395.1:c.1164+10G>A	NP_001276324.1:n.1164+10G>A
NM_003322.4:c.1323+10G>A	NP_003313.3:n.1323+10G>A
NM_003322.5:c.1323+10G>A	NP_003313.3:n.1323+10G>A
NM_003322.6:c.1323+10G>A MANE Select	NP_003313.3:n.1323+10G>A
NM_001289395.2:c.1164+10G>A	NP_001276324.1:n.1164+10G>A