Canonical Allele Identifier: CA449942479

Gene: TULP1

Linked Data

• gnomAD v4: 6-35500138-C-T
• MyVariant Identifiers: chr6:g.35467915C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500138C>T , CM000668.2:g.35500138C>T	GRCh38
NC_000006.11:g.35467915C>T , CM000668.1:g.35467915C>T	GRCh37
NC_000006.10:g.35575893C>T	NCBI36
NG_009077.1:g.17733G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1338G>A MANE Select	ENSP00000229771.6:p.Leu446=
ENST00000229771.10:c.1338G>A	ENSP00000229771.6:p.Leu446=
ENST00000322263.8:c.1179G>A	ENSP00000319414.4:p.Leu393=
ENST00000495781.1:n.514G>A
ENST00000614066.4:c.1332G>A	ENSP00000477534.1:p.Leu444=
NM_001289395.1:c.1179G>A	NP_001276324.1:p.Leu393=
NM_003322.4:c.1338G>A	NP_003313.3:p.Leu446=
NM_003322.5:c.1338G>A	NP_003313.3:p.Leu446=
NM_003322.6:c.1338G>A MANE Select	NP_003313.3:p.Leu446=
NM_001289395.2:c.1179G>A	NP_001276324.1:p.Leu393=