Canonical Allele Identifier: CA1087824440
Gene: TULP1 HGNC NCBI

Linked Data

dbSNP Id: rs1768815002
gnomAD v3: 6-35500423-T-C
gnomAD v4: 6-35500423-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500423T>C , CM000668.2:g.35500423T>C GRCh38
NC_000006.11:g.35468200T>C , CM000668.1:g.35468200T>C GRCh37
NC_000006.10:g.35576178T>C NCBI36
NG_009077.1:g.17448A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1324-271A>G MANE Select ENSP00000229771.6:n.1324-271A>G
ENST00000229771.10:c.1324-271A>G ENSP00000229771.6:n.1324-271A>G
ENST00000322263.8:c.1165-271A>G ENSP00000319414.4:n.1165-271A>G
ENST00000495781.1:n.500-271A>G
ENST00000614066.4:c.1318-271A>G ENSP00000477534.1:n.1318-271A>G
NM_001289395.1:c.1165-271A>G NP_001276324.1:n.1165-271A>G
NM_003322.4:c.1324-271A>G NP_003313.3:n.1324-271A>G
NM_003322.5:c.1324-271A>G NP_003313.3:n.1324-271A>G
NM_003322.6:c.1324-271A>G MANE Select NP_003313.3:n.1324-271A>G
NM_001289395.2:c.1165-271A>G NP_001276324.1:n.1165-271A>G