Canonical Allele Identifier: CA227719

Gene: TULP1

Linked Data

• ClinVar Variation Id: 99675
• ClinVar RCV Id: RCV000086081 ; RCV001255922 ; RCV001376338
• dbSNP Id: rs281865166
• gnomAD v2: 6-35480415-C-T
• gnomAD v4: 6-35512638-C-T
• MyVariant Identifiers: chr6:g.35480415C>T (hg19) ; chr6:g.35512638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35512638C>T , CM000668.2:g.35512638C>T	GRCh38
NC_000006.11:g.35480415C>T , CM000668.1:g.35480415C>T	GRCh37
NC_000006.10:g.35588393C>T	NCBI36
NG_009077.1:g.5233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.99+1G>A MANE Select	ENSP00000229771.6:n.99+1G>A
ENST00000229771.10:c.99+1G>A	ENSP00000229771.6:n.99+1G>A
ENST00000322263.8:c.99+1G>A	ENSP00000319414.4:n.99+1G>A
ENST00000428978.1:c.99+1G>A	ENSP00000406765.1:n.99+1G>A
ENST00000614066.4:c.99+1G>A	ENSP00000477534.1:n.99+1G>A
NM_001289395.1:c.99+1G>A	NP_001276324.1:n.99+1G>A
NM_003322.4:c.99+1G>A	NP_003313.3:n.99+1G>A
NM_003322.5:c.99+1G>A	NP_003313.3:n.99+1G>A
NM_003322.6:c.99+1G>A MANE Select	NP_003313.3:n.99+1G>A
NM_001289395.2:c.99+1G>A	NP_001276324.1:n.99+1G>A