Canonical Allele Identifier: CA2678414470
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500302-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500302C>G , CM000668.2:g.35500302C>G GRCh38
NC_000006.11:g.35468079C>G , CM000668.1:g.35468079C>G GRCh37
NC_000006.10:g.35576057C>G NCBI36
NG_009077.1:g.17569G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1324-150G>C MANE Select ENSP00000229771.6:n.1324-150G>C
ENST00000229771.10:c.1324-150G>C ENSP00000229771.6:n.1324-150G>C
ENST00000322263.8:c.1165-150G>C ENSP00000319414.4:n.1165-150G>C
ENST00000495781.1:n.500-150G>C
ENST00000614066.4:c.1318-150G>C ENSP00000477534.1:n.1318-150G>C
NM_001289395.1:c.1165-150G>C NP_001276324.1:n.1165-150G>C
NM_003322.4:c.1324-150G>C NP_003313.3:n.1324-150G>C
NM_003322.5:c.1324-150G>C NP_003313.3:n.1324-150G>C
NM_003322.6:c.1324-150G>C MANE Select NP_003313.3:n.1324-150G>C
NM_001289395.2:c.1165-150G>C NP_001276324.1:n.1165-150G>C