Canonical Allele Identifier: CA363778957
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467910A>C (hg19) chr6:g.35500133A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500133A>C , CM000668.2:g.35500133A>C GRCh38
NC_000006.11:g.35467910A>C , CM000668.1:g.35467910A>C GRCh37
NC_000006.10:g.35575888A>C NCBI36
NG_009077.1:g.17738T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1343T>G MANE Select ENSP00000229771.6:p.Val448Gly
ENST00000229771.10:c.1343T>G ENSP00000229771.6:p.Val448Gly
ENST00000322263.8:c.1184T>G ENSP00000319414.4:p.Val395Gly
ENST00000495781.1:n.519T>G
ENST00000614066.4:c.1337T>G ENSP00000477534.1:p.Val446Gly
NM_001289395.1:c.1184T>G NP_001276324.1:p.Val395Gly
NM_003322.4:c.1343T>G NP_003313.3:p.Val448Gly
NM_003322.5:c.1343T>G NP_003313.3:p.Val448Gly
NM_003322.6:c.1343T>G MANE Select NP_003313.3:p.Val448Gly
NM_001289395.2:c.1184T>G NP_001276324.1:p.Val395Gly
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