Canonical Allele Identifier: CA449942457
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467900C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500123C>T , CM000668.2:g.35500123C>T GRCh38
NC_000006.11:g.35467900C>T , CM000668.1:g.35467900C>T GRCh37
NC_000006.10:g.35575878C>T NCBI36
NG_009077.1:g.17748G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1353G>A MANE Select ENSP00000229771.6:p.Gln451=
ENST00000229771.10:c.1353G>A ENSP00000229771.6:p.Gln451=
ENST00000322263.8:c.1194G>A ENSP00000319414.4:p.Gln398=
ENST00000495781.1:n.529G>A
ENST00000614066.4:c.1347G>A ENSP00000477534.1:p.Gln449=
NM_001289395.1:c.1194G>A NP_001276324.1:p.Gln398=
NM_003322.4:c.1353G>A NP_003313.3:p.Gln451=
NM_003322.5:c.1353G>A NP_003313.3:p.Gln451=
NM_003322.6:c.1353G>A MANE Select NP_003313.3:p.Gln451=
NM_001289395.2:c.1194G>A NP_001276324.1:p.Gln398=