Canonical Allele Identifier: CA363778549
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467793G>T (hg19) chr6:g.35500016G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500016G>T , CM000668.2:g.35500016G>T GRCh38
NC_000006.11:g.35467793G>T , CM000668.1:g.35467793G>T GRCh37
NC_000006.10:g.35575771G>T NCBI36
NG_009077.1:g.17855C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1460C>A MANE Select ENSP00000229771.6:p.Ser487Ter
ENST00000229771.10:c.1460C>A ENSP00000229771.6:p.Ser487Ter
ENST00000322263.8:c.1301C>A ENSP00000319414.4:p.Ser434Ter
ENST00000614066.4:c.1454C>A ENSP00000477534.1:p.Ser485Ter
NM_001289395.1:c.1301C>A NP_001276324.1:p.Ser434Ter
NM_003322.4:c.1460C>A NP_003313.3:p.Ser487Ter
NM_003322.5:c.1460C>A NP_003313.3:p.Ser487Ter
NM_003322.6:c.1460C>A MANE Select NP_003313.3:p.Ser487Ter
NM_001289395.2:c.1301C>A NP_001276324.1:p.Ser434Ter
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