Canonical Allele Identifier: CA3772599

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503564G>A , CM000668.2:g.35503564G>A	GRCh38
NC_000006.11:g.35471341G>A , CM000668.1:g.35471341G>A	GRCh37
NC_000006.10:g.35579319G>A	NCBI36
NG_009077.1:g.14307C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1318C>T MANE Select	NP_003313.3:p.Arg440Ter
ENST00000229771.11:c.1318C>T MANE Select	ENSP00000229771.6:p.Arg440Ter
NM_001289395.1:c.1159C>T	NP_001276324.1:p.Arg387Ter
NM_001289395.2:c.1159C>T	NP_001276324.1:p.Arg387Ter
NM_003322.4:c.1318C>T	NP_003313.3:p.Arg440Ter
NM_003322.5:c.1318C>T	NP_003313.3:p.Arg440Ter
ENST00000229771.10:c.1318C>T	ENSP00000229771.6:p.Arg440Ter
ENST00000322263.8:c.1159C>T	ENSP00000319414.4:p.Arg387Ter
ENST00000495781.1:n.494C>T
ENST00000496434.5:n.335C>T
ENST00000614066.4:c.1312C>T	ENSP00000477534.1:p.Arg438Ter