Canonical Allele Identifier: CA3772570

Gene: TULP1

Linked Data

• ClinVar Variation Id: 374739
• ClinVar RCV Id: RCV000416144 ; RCV004022188 ; RCV003889880
• dbSNP Id: rs181172036
• ExAC: 6:35467920 C / T
• gnomAD v2: 6-35467920-C-T
• gnomAD v3: 6-35500143-C-T
• gnomAD v4: 6-35500143-C-T
• MyVariant Identifiers: chr6:g.35467920C>T (hg19) ; chr6:g.35500143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500143C>T , CM000668.2:g.35500143C>T	GRCh38
NC_000006.11:g.35467920C>T , CM000668.1:g.35467920C>T	GRCh37
NC_000006.10:g.35575898C>T	NCBI36
NG_009077.1:g.17728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1333G>A MANE Select	ENSP00000229771.6:p.Gly445Ser
ENST00000229771.10:c.1333G>A	ENSP00000229771.6:p.Gly445Ser
ENST00000322263.8:c.1174G>A	ENSP00000319414.4:p.Gly392Ser
ENST00000495781.1:n.509G>A
ENST00000614066.4:c.1327G>A	ENSP00000477534.1:p.Gly443Ser
NM_001289395.1:c.1174G>A	NP_001276324.1:p.Gly392Ser
NM_003322.4:c.1333G>A	NP_003313.3:p.Gly445Ser
NM_003322.5:c.1333G>A	NP_003313.3:p.Gly445Ser
NM_003322.6:c.1333G>A MANE Select	NP_003313.3:p.Gly445Ser
NM_001289395.2:c.1174G>A	NP_001276324.1:p.Gly392Ser