Canonical Allele Identifier: CA449942472
Gene: TULP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.35467912C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500135C>A , CM000668.2:g.35500135C>A GRCh38
NC_000006.11:g.35467912C>A , CM000668.1:g.35467912C>A GRCh37
NC_000006.10:g.35575890C>A NCBI36
NG_009077.1:g.17736G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1341G>T MANE Select ENSP00000229771.6:p.Leu447=
ENST00000229771.10:c.1341G>T ENSP00000229771.6:p.Leu447=
ENST00000322263.8:c.1182G>T ENSP00000319414.4:p.Leu394=
ENST00000495781.1:n.517G>T
ENST00000614066.4:c.1335G>T ENSP00000477534.1:p.Leu445=
NM_001289395.1:c.1182G>T NP_001276324.1:p.Leu394=
NM_003322.4:c.1341G>T NP_003313.3:p.Leu447=
NM_003322.5:c.1341G>T NP_003313.3:p.Leu447=
NM_003322.6:c.1341G>T MANE Select NP_003313.3:p.Leu447=
NM_001289395.2:c.1182G>T NP_001276324.1:p.Leu394=