Canonical Allele Identifier: CA227705
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 99663
ClinVar RCV Id: RCV000086069 RCV001542663
dbSNP Id: rs62636511
ExAC: 6:35467787 T / C
gnomAD v2: 6-35467787-T-C
gnomAD v4: 6-35500010-T-C
MyVariant Identifiers: chr6:g.35467787T>C (hg19) chr6:g.35500010T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500010T>C , CM000668.2:g.35500010T>C GRCh38
NC_000006.11:g.35467787T>C , CM000668.1:g.35467787T>C GRCh37
NC_000006.10:g.35575765T>C NCBI36
NG_009077.1:g.17861A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1466A>G MANE Select ENSP00000229771.6:p.Lys489Arg
ENST00000229771.10:c.1466A>G ENSP00000229771.6:p.Lys489Arg
ENST00000322263.8:c.1307A>G ENSP00000319414.4:p.Lys436Arg
ENST00000614066.4:c.1460A>G ENSP00000477534.1:p.Lys487Arg
NM_001289395.1:c.1307A>G NP_001276324.1:p.Lys436Arg
NM_003322.4:c.1466A>G NP_003313.3:p.Lys489Arg
NM_003322.5:c.1466A>G NP_003313.3:p.Lys489Arg
NM_003322.6:c.1466A>G MANE Select NP_003313.3:p.Lys489Arg
NM_001289395.2:c.1307A>G NP_001276324.1:p.Lys436Arg
Search 100 bp 5'
Search 100 bp 3'