Canonical Allele Identifier: CA363778995

Gene: TULP1

Linked Data

• dbSNP Id: rs1340933496
• gnomAD v3: 6-35500152-C-T
• gnomAD v4: 6-35500152-C-T
• MyVariant Identifiers: chr6:g.35467929C>T (hg19) ; chr6:g.35500152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500152C>T , CM000668.2:g.35500152C>T	GRCh38
NC_000006.11:g.35467929C>T , CM000668.1:g.35467929C>T	GRCh37
NC_000006.10:g.35575907C>T	NCBI36
NG_009077.1:g.17719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324G>A MANE Select	ENSP00000229771.6:p.Ala442Thr
ENST00000229771.10:c.1324G>A	ENSP00000229771.6:p.Ala442Thr
ENST00000322263.8:c.1165G>A	ENSP00000319414.4:p.Ala389Thr
ENST00000495781.1:n.500G>A
ENST00000614066.4:c.1318G>A	ENSP00000477534.1:p.Ala440Thr
NM_001289395.1:c.1165G>A	NP_001276324.1:p.Ala389Thr
NM_003322.4:c.1324G>A	NP_003313.3:p.Ala442Thr
NM_003322.5:c.1324G>A	NP_003313.3:p.Ala442Thr
NM_003322.6:c.1324G>A MANE Select	NP_003313.3:p.Ala442Thr
NM_001289395.2:c.1165G>A	NP_001276324.1:p.Ala389Thr