Canonical Allele Identifier: CA259774
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35503763G>A
GRCh37 chr6:g.35471540G>A
Revel Score:
ENST00000229771 (MANE Select) 0.969
ENST00000322263 0.969
gnomAD v4:
chr6-35503763-G-A
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000386 (SAS)
ClinVar Allele:
39217
ClinVar RCV:
RCV000023188
RCV000852373
RCV003556074
ClinVar Variation:
30261
dbSNP:
387906836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503763G>A , CM000668.2:g.35503763G>A GRCh38
NC_000006.11:g.35471540G>A , CM000668.1:g.35471540G>A GRCh37
NC_000006.10:g.35579518G>A NCBI36
NG_009077.1:g.14108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1198C>T MANE Select ENSP00000229771.6:p.Arg400Trp
ENST00000229771.10:c.1198C>T ENSP00000229771.6:p.Arg400Trp
ENST00000322263.8:c.1039C>T ENSP00000319414.4:p.Arg347Trp
ENST00000373892.4:n.800C>T
ENST00000495781.1:n.374C>T
ENST00000496434.5:n.215C>T
ENST00000614066.4:c.1192C>T ENSP00000477534.1:p.Arg398Trp
NM_001289395.1:c.1039C>T NP_001276324.1:p.Arg347Trp
NM_003322.4:c.1198C>T NP_003313.3:p.Arg400Trp
NM_003322.5:c.1198C>T NP_003313.3:p.Arg400Trp
NM_003322.6:c.1198C>T MANE Select NP_003313.3:p.Arg400Trp
NM_001289395.2:c.1039C>T NP_001276324.1:p.Arg347Trp
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