Canonical Allele Identifier: CA3772909
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35510849C>G
GRCh37 chr6:g.35478626C>G
gnomAD v2:
6:35478626 C / G
gnomAD v3:
6:35510849 C / G
gnomAD v4:
chr6-35510849-C-G
Joint Max Group AF 0.00701147 (MID)
Genomes Max Group AF 0.00694342 (AMR)
Exomes Max Group AF 0.00675454 (MID)
ClinVar Allele:
302611
ClinVar RCV:
RCV000289767
RCV000344699
RCV001516160
ClinVar Variation:
356471
dbSNP:
185636479
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35510849C>G , CM000668.2:g.35510849C>G GRCh38
NC_000006.11:g.35478626C>G , CM000668.1:g.35478626C>G GRCh37
NC_000006.10:g.35586604C>G NCBI36
NG_009077.1:g.7022G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.499+12G>C MANE Select ENSP00000229771.6:n.499+12G>C
ENST00000229771.10:c.499+12G>C ENSP00000229771.6:n.499+12G>C
ENST00000322263.8:c.340+12G>C ENSP00000319414.4:n.340+12G>C
ENST00000373892.4:n.320+799G>C
ENST00000428978.1:c.355+12G>C ENSP00000406765.1:n.355+12G>C
ENST00000448446.2:n.416G>C
ENST00000614066.4:c.499+12G>C ENSP00000477534.1:n.499+12G>C
NM_001289395.1:c.340+12G>C NP_001276324.1:n.340+12G>C
NM_003322.4:c.499+12G>C NP_003313.3:n.499+12G>C
NM_003322.5:c.499+12G>C NP_003313.3:n.499+12G>C
NM_003322.6:c.499+12G>C MANE Select NP_003313.3:n.499+12G>C
NM_001289395.2:c.340+12G>C NP_001276324.1:n.340+12G>C
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