Canonical Allele Identifier: CA363778970

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35467916A>T (hg19) ; chr6:g.35500139A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500139A>T , CM000668.2:g.35500139A>T	GRCh38
NC_000006.11:g.35467916A>T , CM000668.1:g.35467916A>T	GRCh37
NC_000006.10:g.35575894A>T	NCBI36
NG_009077.1:g.17732T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1337T>A MANE Select	ENSP00000229771.6:p.Leu446Gln
ENST00000229771.10:c.1337T>A	ENSP00000229771.6:p.Leu446Gln
ENST00000322263.8:c.1178T>A	ENSP00000319414.4:p.Leu393Gln
ENST00000495781.1:n.513T>A
ENST00000614066.4:c.1331T>A	ENSP00000477534.1:p.Leu444Gln
NM_001289395.1:c.1178T>A	NP_001276324.1:p.Leu393Gln
NM_003322.4:c.1337T>A	NP_003313.3:p.Leu446Gln
NM_003322.5:c.1337T>A	NP_003313.3:p.Leu446Gln
NM_003322.6:c.1337T>A MANE Select	NP_003313.3:p.Leu446Gln
NM_001289395.2:c.1178T>A	NP_001276324.1:p.Leu393Gln