Canonical Allele Identifier: CA363778971
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500140-G-C
MyVariant Identifiers: chr6:g.35467917G>C (hg19) chr6:g.35500140G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500140G>C , CM000668.2:g.35500140G>C GRCh38
NC_000006.11:g.35467917G>C , CM000668.1:g.35467917G>C GRCh37
NC_000006.10:g.35575895G>C NCBI36
NG_009077.1:g.17731C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1336C>G MANE Select ENSP00000229771.6:p.Leu446Val
ENST00000229771.10:c.1336C>G ENSP00000229771.6:p.Leu446Val
ENST00000322263.8:c.1177C>G ENSP00000319414.4:p.Leu393Val
ENST00000495781.1:n.512C>G
ENST00000614066.4:c.1330C>G ENSP00000477534.1:p.Leu444Val
NM_001289395.1:c.1177C>G NP_001276324.1:p.Leu393Val
NM_003322.4:c.1336C>G NP_003313.3:p.Leu446Val
NM_003322.5:c.1336C>G NP_003313.3:p.Leu446Val
NM_003322.6:c.1336C>G MANE Select NP_003313.3:p.Leu446Val
NM_001289395.2:c.1177C>G NP_001276324.1:p.Leu393Val
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