Canonical Allele Identifier: CA2678413749
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35499912-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35499912G>T , CM000668.2:g.35499912G>T GRCh38
NC_000006.11:g.35467689G>T , CM000668.1:g.35467689G>T GRCh37
NC_000006.10:g.35575667G>T NCBI36
NG_009077.1:g.17959C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1495+69C>A MANE Select ENSP00000229771.6:n.1495+69C>A
ENST00000229771.10:c.1495+69C>A ENSP00000229771.6:n.1495+69C>A
ENST00000322263.8:c.1336+69C>A ENSP00000319414.4:n.1336+69C>A
ENST00000614066.4:c.1489+69C>A ENSP00000477534.1:n.1489+69C>A
NM_001289395.1:c.1336+69C>A NP_001276324.1:n.1336+69C>A
NM_003322.4:c.1495+69C>A NP_003313.3:n.1495+69C>A
NM_003322.5:c.1495+69C>A NP_003313.3:n.1495+69C>A
NM_003322.6:c.1495+69C>A MANE Select NP_003313.3:n.1495+69C>A
NM_001289395.2:c.1336+69C>A NP_001276324.1:n.1336+69C>A