Canonical Allele Identifier: CA227709
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35498466G>T
GRCh37 chr6:g.35466243G>T
gnomAD v2:
6:35466243 G / T
gnomAD v3:
6:35498466 G / T
gnomAD v4:
chr6-35498466-G-T
Joint Max Group AF 0.00018038 (NFE)
Genomes Max Group AF 0.00011225 (NFE)
Exomes Max Group AF 0.00018018 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35498466G>T , CM000668.2:g.35498466G>T GRCh38
NC_000006.11:g.35466243G>T , CM000668.1:g.35466243G>T GRCh37
NC_000006.10:g.35574221G>T NCBI36
NG_009077.1:g.19405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1496-6C>A MANE Select ENSP00000229771.6:n.1496-6C>A
ENST00000229771.10:c.1496-6C>A ENSP00000229771.6:n.1496-6C>A
ENST00000322263.8:c.1337-6C>A ENSP00000319414.4:n.1337-6C>A
ENST00000614066.4:c.1490-6C>A ENSP00000477534.1:n.1490-6C>A
NM_001289395.1:c.1337-6C>A NP_001276324.1:n.1337-6C>A
NM_003322.4:c.1496-6C>A NP_003313.3:n.1496-6C>A
NM_003322.5:c.1496-6C>A NP_003313.3:n.1496-6C>A
NM_003322.6:c.1496-6C>A MANE Select NP_003313.3:n.1496-6C>A
NM_001289395.2:c.1337-6C>A NP_001276324.1:n.1337-6C>A
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