Canonical Allele Identifier: CA137277939
Gene: TULP1 HGNC NCBI

Linked Data

dbSNP Id: rs371698754
gnomAD v3: 6-35499907-G-A
gnomAD v4: 6-35499907-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35499907G>A , CM000668.2:g.35499907G>A GRCh38
NC_000006.11:g.35467684G>A , CM000668.1:g.35467684G>A GRCh37
NC_000006.10:g.35575662G>A NCBI36
NG_009077.1:g.17964C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1495+74C>T MANE Select ENSP00000229771.6:n.1495+74C>T
ENST00000229771.10:c.1495+74C>T ENSP00000229771.6:n.1495+74C>T
ENST00000322263.8:c.1336+74C>T ENSP00000319414.4:n.1336+74C>T
ENST00000614066.4:c.1489+74C>T ENSP00000477534.1:n.1489+74C>T
NM_001289395.1:c.1336+74C>T NP_001276324.1:n.1336+74C>T
NM_003322.4:c.1495+74C>T NP_003313.3:n.1495+74C>T
NM_003322.5:c.1495+74C>T NP_003313.3:n.1495+74C>T
NM_003322.6:c.1495+74C>T MANE Select NP_003313.3:n.1495+74C>T
NM_001289395.2:c.1336+74C>T NP_001276324.1:n.1336+74C>T