Canonical Allele Identifier: CA1620928837
Gene: TULP1 HGNC NCBI

Linked Data

dbSNP Id: rs1768791649
gnomAD v4: 6-35499865-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35499865A>G , CM000668.2:g.35499865A>G GRCh38
NC_000006.11:g.35467642A>G , CM000668.1:g.35467642A>G GRCh37
NC_000006.10:g.35575620A>G NCBI36
NG_009077.1:g.18006T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1495+116T>C MANE Select ENSP00000229771.6:n.1495+116T>C
ENST00000229771.10:c.1495+116T>C ENSP00000229771.6:n.1495+116T>C
ENST00000322263.8:c.1336+116T>C ENSP00000319414.4:n.1336+116T>C
ENST00000614066.4:c.1489+116T>C ENSP00000477534.1:n.1489+116T>C
NM_001289395.1:c.1336+116T>C NP_001276324.1:n.1336+116T>C
NM_003322.4:c.1495+116T>C NP_003313.3:n.1495+116T>C
NM_003322.5:c.1495+116T>C NP_003313.3:n.1495+116T>C
NM_003322.6:c.1495+116T>C MANE Select NP_003313.3:n.1495+116T>C
NM_001289395.2:c.1336+116T>C NP_001276324.1:n.1336+116T>C
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