Canonical Allele Identifier: CA566703203

Gene: TULP1

Linked Data

• dbSNP Id: rs775102589
• gnomAD v2: 6-35468219-A-T
• gnomAD v3: 6-35500442-A-T
• gnomAD v4: 6-35500442-A-T
• MyVariant Identifiers: chr6:g.35468219A>T (hg19) ; chr6:g.35500442A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500442A>T , CM000668.2:g.35500442A>T	GRCh38
NC_000006.11:g.35468219A>T , CM000668.1:g.35468219A>T	GRCh37
NC_000006.10:g.35576197A>T	NCBI36
NG_009077.1:g.17429T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-290T>A MANE Select	ENSP00000229771.6:n.1324-290T>A
ENST00000229771.10:c.1324-290T>A	ENSP00000229771.6:n.1324-290T>A
ENST00000322263.8:c.1165-290T>A	ENSP00000319414.4:n.1165-290T>A
ENST00000495781.1:n.500-290T>A
ENST00000614066.4:c.1318-290T>A	ENSP00000477534.1:n.1318-290T>A
NM_001289395.1:c.1165-290T>A	NP_001276324.1:n.1165-290T>A
NM_003322.4:c.1324-290T>A	NP_003313.3:n.1324-290T>A
NM_003322.5:c.1324-290T>A	NP_003313.3:n.1324-290T>A
NM_003322.6:c.1324-290T>A MANE Select	NP_003313.3:n.1324-290T>A
NM_001289395.2:c.1165-290T>A	NP_001276324.1:n.1165-290T>A