Canonical Allele Identifier: CA259775
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35505751C>A
GRCh37 chr6:g.35473528C>A
Revel Score:
ENST00000229771 (MANE Select) 0.972
ENST00000322263 0.972
gnomAD v2:
6:35473528 C / A
gnomAD v4:
chr6-35505751-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
39218
ClinVar RCV:
RCV000023189
RCV001857359
ClinVar Variation:
30262
dbSNP:
387906837
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35505751C>A , CM000668.2:g.35505751C>A GRCh38
NC_000006.11:g.35473528C>A , CM000668.1:g.35473528C>A GRCh37
NC_000006.10:g.35581506C>A NCBI36
NG_009077.1:g.12120G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1102G>T MANE Select ENSP00000229771.6:p.Gly368Trp
ENST00000229771.10:c.1102G>T ENSP00000229771.6:p.Gly368Trp
ENST00000322263.8:c.943G>T ENSP00000319414.4:p.Gly315Trp
ENST00000373892.4:n.704G>T
ENST00000496434.5:n.119G>T
ENST00000614066.4:c.1096G>T ENSP00000477534.1:p.Gly366Trp
NM_001289395.1:c.943G>T NP_001276324.1:p.Gly315Trp
NM_003322.4:c.1102G>T NP_003313.3:p.Gly368Trp
NM_003322.5:c.1102G>T NP_003313.3:p.Gly368Trp
NM_003322.6:c.1102G>T MANE Select NP_003313.3:p.Gly368Trp
NM_001289395.2:c.943G>T NP_001276324.1:p.Gly315Trp
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