Canonical Allele Identifier: CA2678414413
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500259-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500259C>T , CM000668.2:g.35500259C>T GRCh38
NC_000006.11:g.35468036C>T , CM000668.1:g.35468036C>T GRCh37
NC_000006.10:g.35576014C>T NCBI36
NG_009077.1:g.17612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1324-107G>A MANE Select ENSP00000229771.6:n.1324-107G>A
ENST00000229771.10:c.1324-107G>A ENSP00000229771.6:n.1324-107G>A
ENST00000322263.8:c.1165-107G>A ENSP00000319414.4:n.1165-107G>A
ENST00000495781.1:n.500-107G>A
ENST00000614066.4:c.1318-107G>A ENSP00000477534.1:n.1318-107G>A
NM_001289395.1:c.1165-107G>A NP_001276324.1:n.1165-107G>A
NM_003322.4:c.1324-107G>A NP_003313.3:n.1324-107G>A
NM_003322.5:c.1324-107G>A NP_003313.3:n.1324-107G>A
NM_003322.6:c.1324-107G>A MANE Select NP_003313.3:n.1324-107G>A
NM_001289395.2:c.1165-107G>A NP_001276324.1:n.1165-107G>A