Canonical Allele Identifier: CA1620929316

Gene: TULP1

Linked Data

• dbSNP Id: rs1561812495
• gnomAD v3: 6-35500241-G-C
• gnomAD v4: 6-35500241-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500241G>C , CM000668.2:g.35500241G>C	GRCh38
NC_000006.11:g.35468018G>C , CM000668.1:g.35468018G>C	GRCh37
NC_000006.10:g.35575996G>C	NCBI36
NG_009077.1:g.17630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1324-89C>G MANE Select	ENSP00000229771.6:n.1324-89C>G
ENST00000229771.10:c.1324-89C>G	ENSP00000229771.6:n.1324-89C>G
ENST00000322263.8:c.1165-89C>G	ENSP00000319414.4:n.1165-89C>G
ENST00000495781.1:n.500-89C>G
ENST00000614066.4:c.1318-89C>G	ENSP00000477534.1:n.1318-89C>G
NM_001289395.1:c.1165-89C>G	NP_001276324.1:n.1165-89C>G
NM_003322.4:c.1324-89C>G	NP_003313.3:n.1324-89C>G
NM_003322.5:c.1324-89C>G	NP_003313.3:n.1324-89C>G
NM_003322.6:c.1324-89C>G MANE Select	NP_003313.3:n.1324-89C>G
NM_001289395.2:c.1165-89C>G	NP_001276324.1:n.1165-89C>G