Canonical Allele Identifier: CA3772881
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35509884T>C
GRCh37 chr6:g.35477661T>C
Revel Score:
ENST00000229771 (MANE Select) 0.154
ENST00000322263 0.154
ENST00000545327 0.154
ENST00000428978 0.154
gnomAD v2:
6:35477661 T / C
gnomAD v3:
6:35509884 T / C
gnomAD v4:
chr6-35509884-T-C
Joint Max Group AF 0.00070899 (NFE)
Genomes Max Group AF 0.00059881 (NFE)
Exomes Max Group AF 0.00070654 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35509884T>C , CM000668.2:g.35509884T>C GRCh38
NC_000006.11:g.35477661T>C , CM000668.1:g.35477661T>C GRCh37
NC_000006.10:g.35585639T>C NCBI36
NG_009077.1:g.7987A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.544A>G MANE Select ENSP00000229771.6:p.Arg182Gly
ENST00000229771.10:c.544A>G ENSP00000229771.6:p.Arg182Gly
ENST00000322263.8:c.385A>G ENSP00000319414.4:p.Arg129Gly
ENST00000373892.4:n.321-572A>G
ENST00000428978.1:c.400A>G ENSP00000406765.1:p.Arg134Gly
ENST00000614066.4:c.544A>G ENSP00000477534.1:p.Arg182Gly
NM_001289395.1:c.385A>G NP_001276324.1:p.Arg129Gly
NM_003322.4:c.544A>G NP_003313.3:p.Arg182Gly
NM_003322.5:c.544A>G NP_003313.3:p.Arg182Gly
NM_003322.6:c.544A>G MANE Select NP_003313.3:p.Arg182Gly
NM_001289395.2:c.385A>G NP_001276324.1:p.Arg129Gly
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