Canonical Allele Identifier: CA227708

Gene: TULP1

Linked Data

• ClinVar Variation Id: 99665
• ClinVar RCV Id: RCV000086071 ; RCV000454167 ; RCV000454250 ; RCV001257785 ; RCV001075035
• dbSNP Id: rs281865168
• gnomAD v2: 6-35467757-C-T
• gnomAD v3: 6-35499980-C-T
• gnomAD v4: 6-35499980-C-T
• COSMIC: COSM3873453
• MyVariant Identifiers: chr6:g.35467757C>T (hg19) ; chr6:g.35499980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35499980C>T , CM000668.2:g.35499980C>T	GRCh38
NC_000006.11:g.35467757C>T , CM000668.1:g.35467757C>T	GRCh37
NC_000006.10:g.35575735C>T	NCBI36
NG_009077.1:g.17891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1495+1G>A MANE Select	ENSP00000229771.6:n.1495+1G>A
ENST00000229771.10:c.1495+1G>A	ENSP00000229771.6:n.1495+1G>A
ENST00000322263.8:c.1336+1G>A	ENSP00000319414.4:n.1336+1G>A
ENST00000614066.4:c.1489+1G>A	ENSP00000477534.1:n.1489+1G>A
NM_001289395.1:c.1336+1G>A	NP_001276324.1:n.1336+1G>A
NM_003322.4:c.1495+1G>A	NP_003313.3:n.1495+1G>A
NM_003322.5:c.1495+1G>A	NP_003313.3:n.1495+1G>A
NM_003322.6:c.1495+1G>A MANE Select	NP_003313.3:n.1495+1G>A
NM_001289395.2:c.1336+1G>A	NP_001276324.1:n.1336+1G>A