Canonical Allele Identifier: CA363778974
Gene: TULP1 HGNC NCBI

Linked Data

gnomAD v4: 6-35500142-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500142C>G , CM000668.2:g.35500142C>G GRCh38
NC_000006.11:g.35467919C>G , CM000668.1:g.35467919C>G GRCh37
NC_000006.10:g.35575897C>G NCBI36
NG_009077.1:g.17729G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1334G>C MANE Select ENSP00000229771.6:p.Gly445Ala
ENST00000229771.10:c.1334G>C ENSP00000229771.6:p.Gly445Ala
ENST00000322263.8:c.1175G>C ENSP00000319414.4:p.Gly392Ala
ENST00000495781.1:n.510G>C
ENST00000614066.4:c.1328G>C ENSP00000477534.1:p.Gly443Ala
NM_001289395.1:c.1175G>C NP_001276324.1:p.Gly392Ala
NM_003322.4:c.1334G>C NP_003313.3:p.Gly445Ala
NM_003322.5:c.1334G>C NP_003313.3:p.Gly445Ala
NM_003322.6:c.1334G>C MANE Select NP_003313.3:p.Gly445Ala
NM_001289395.2:c.1175G>C NP_001276324.1:p.Gly392Ala