Canonical Allele Identifier: CA137278474
Gene: TULP1 HGNC NCBI

Linked Data

dbSNP Id: rs759531934
gnomAD v3: 6-35500303-A-G
gnomAD v4: 6-35500303-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500303A>G , CM000668.2:g.35500303A>G GRCh38
NC_000006.11:g.35468080A>G , CM000668.1:g.35468080A>G GRCh37
NC_000006.10:g.35576058A>G NCBI36
NG_009077.1:g.17568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1324-151T>C MANE Select ENSP00000229771.6:n.1324-151T>C
ENST00000229771.10:c.1324-151T>C ENSP00000229771.6:n.1324-151T>C
ENST00000322263.8:c.1165-151T>C ENSP00000319414.4:n.1165-151T>C
ENST00000495781.1:n.500-151T>C
ENST00000614066.4:c.1318-151T>C ENSP00000477534.1:n.1318-151T>C
NM_001289395.1:c.1165-151T>C NP_001276324.1:n.1165-151T>C
NM_003322.4:c.1324-151T>C NP_003313.3:n.1324-151T>C
NM_003322.5:c.1324-151T>C NP_003313.3:n.1324-151T>C
NM_003322.6:c.1324-151T>C MANE Select NP_003313.3:n.1324-151T>C
NM_001289395.2:c.1165-151T>C NP_001276324.1:n.1165-151T>C