Canonical Allele Identifier: CA449942315
Gene: TULP1 HGNC NCBI

Linked Data

dbSNP Id: rs1768796494
MyVariant Identifiers: chr6:g.35467792T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500015T>G , CM000668.2:g.35500015T>G GRCh38
NC_000006.11:g.35467792T>G , CM000668.1:g.35467792T>G GRCh37
NC_000006.10:g.35575770T>G NCBI36
NG_009077.1:g.17856A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1461A>C MANE Select ENSP00000229771.6:p.Ser487=
ENST00000229771.10:c.1461A>C ENSP00000229771.6:p.Ser487=
ENST00000322263.8:c.1302A>C ENSP00000319414.4:p.Ser434=
ENST00000614066.4:c.1455A>C ENSP00000477534.1:p.Ser485=
NM_001289395.1:c.1302A>C NP_001276324.1:p.Ser434=
NM_003322.4:c.1461A>C NP_003313.3:p.Ser487=
NM_003322.5:c.1461A>C NP_003313.3:p.Ser487=
NM_003322.6:c.1461A>C MANE Select NP_003313.3:p.Ser487=
NM_001289395.2:c.1302A>C NP_001276324.1:p.Ser434=
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