Canonical Allele Identifier: CA363779845
Gene: TULP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35505829G>A
GRCh37 chr6:g.35473606G>A
gnomAD v4:
chr6-35505829-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
443961
ClinVar RCV:
RCV000519299
RCV001591182
ClinVar Variation:
450005
dbSNP:
767030473
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35505829G>A , CM000668.2:g.35505829G>A GRCh38
NC_000006.11:g.35473606G>A , CM000668.1:g.35473606G>A GRCh37
NC_000006.10:g.35581584G>A NCBI36
NG_009077.1:g.12042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1024C>T MANE Select ENSP00000229771.6:p.Arg342Ter
ENST00000229771.10:c.1024C>T ENSP00000229771.6:p.Arg342Ter
ENST00000322263.8:c.865C>T ENSP00000319414.4:p.Arg289Ter
ENST00000373892.4:n.626C>T
ENST00000496434.5:n.41C>T
ENST00000614066.4:c.1018C>T ENSP00000477534.1:p.Arg340Ter
NM_001289395.1:c.865C>T NP_001276324.1:p.Arg289Ter
NM_003322.4:c.1024C>T NP_003313.3:p.Arg342Ter
NM_003322.5:c.1024C>T NP_003313.3:p.Arg342Ter
NM_003322.6:c.1024C>T MANE Select NP_003313.3:p.Arg342Ter
NM_001289395.2:c.865C>T NP_001276324.1:p.Arg289Ter
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