Canonical Allele Identifier: CA449942476

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35467914G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500137G>A , CM000668.2:g.35500137G>A	GRCh38
NC_000006.11:g.35467914G>A , CM000668.1:g.35467914G>A	GRCh37
NC_000006.10:g.35575892G>A	NCBI36
NG_009077.1:g.17734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1339C>T MANE Select	ENSP00000229771.6:p.Leu447=
ENST00000229771.10:c.1339C>T	ENSP00000229771.6:p.Leu447=
ENST00000322263.8:c.1180C>T	ENSP00000319414.4:p.Leu394=
ENST00000495781.1:n.515C>T
ENST00000614066.4:c.1333C>T	ENSP00000477534.1:p.Leu445=
NM_001289395.1:c.1180C>T	NP_001276324.1:p.Leu394=
NM_003322.4:c.1339C>T	NP_003313.3:p.Leu447=
NM_003322.5:c.1339C>T	NP_003313.3:p.Leu447=
NM_003322.6:c.1339C>T MANE Select	NP_003313.3:p.Leu447=
NM_001289395.2:c.1180C>T	NP_001276324.1:p.Leu394=