Canonical Allele Identifier: CA363778536
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467790A>G (hg19) chr6:g.35500013A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500013A>G , CM000668.2:g.35500013A>G GRCh38
NC_000006.11:g.35467790A>G , CM000668.1:g.35467790A>G GRCh37
NC_000006.10:g.35575768A>G NCBI36
NG_009077.1:g.17858T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1463T>C MANE Select ENSP00000229771.6:p.Val488Ala
ENST00000229771.10:c.1463T>C ENSP00000229771.6:p.Val488Ala
ENST00000322263.8:c.1304T>C ENSP00000319414.4:p.Val435Ala
ENST00000614066.4:c.1457T>C ENSP00000477534.1:p.Val486Ala
NM_001289395.1:c.1304T>C NP_001276324.1:p.Val435Ala
NM_003322.4:c.1463T>C NP_003313.3:p.Val488Ala
NM_003322.5:c.1463T>C NP_003313.3:p.Val488Ala
NM_003322.6:c.1463T>C MANE Select NP_003313.3:p.Val488Ala
NM_001289395.2:c.1304T>C NP_001276324.1:p.Val435Ala
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