Canonical Allele Identifier: CA3772980
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35511748C>T
GRCh37 chr6:g.35479525C>T
gnomAD v2:
6:35479525 C / T
gnomAD v3:
6:35511748 C / T
gnomAD v4:
chr6-35511748-C-T
Joint Max Group AF 0.00127971 (MID)
Genomes Max Group AF 0.00034243 (NFE)
Exomes Max Group AF 0.00121108 (MID)
ClinVar Allele:
302612
ClinVar RCV:
RCV000305203
RCV000359869
RCV000945530
ClinVar Variation:
356474
dbSNP:
377105125
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35511748C>T , CM000668.2:g.35511748C>T GRCh38
NC_000006.11:g.35479525C>T , CM000668.1:g.35479525C>T GRCh37
NC_000006.10:g.35587503C>T NCBI36
NG_009077.1:g.6123G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.249G>A MANE Select ENSP00000229771.6:p.Ala83=
ENST00000229771.10:c.249G>A ENSP00000229771.6:p.Ala83=
ENST00000322263.8:c.190+432G>A ENSP00000319414.4:n.190+432G>A
ENST00000373892.4:n.220G>A
ENST00000428978.1:c.190+432G>A ENSP00000406765.1:n.190+432G>A
ENST00000448446.2:n.154G>A
ENST00000614066.4:c.249G>A ENSP00000477534.1:p.Ala83=
NM_001289395.1:c.190+432G>A NP_001276324.1:n.190+432G>A
NM_003322.4:c.249G>A NP_003313.3:p.Ala83=
NM_003322.5:c.249G>A NP_003313.3:p.Ala83=
NM_003322.6:c.249G>A MANE Select NP_003313.3:p.Ala83=
NM_001289395.2:c.190+432G>A NP_001276324.1:n.190+432G>A
Search 100 bp 5'
Search 100 bp 3'