Canonical Allele Identifier: CA3772637
Community Standard Title: NM_003322.6(TULP1):c.1153G>A (p.Gly385Arg)
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503808C>T , CM000668.2:g.35503808C>T GRCh38
NC_000006.11:g.35471585C>T , CM000668.1:g.35471585C>T GRCh37
NC_000006.10:g.35579563C>T NCBI36
NG_009077.1:g.14063G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003322.6:c.1153G>A MANE Select NP_003313.3:p.Gly385Arg
ENST00000229771.11:c.1153G>A MANE Select ENSP00000229771.6:p.Gly385Arg
NM_001289395.1:c.994G>A NP_001276324.1:p.Gly332Arg
NM_001289395.2:c.994G>A NP_001276324.1:p.Gly332Arg
NM_003322.4:c.1153G>A NP_003313.3:p.Gly385Arg
NM_003322.5:c.1153G>A NP_003313.3:p.Gly385Arg
ENST00000229771.10:c.1153G>A ENSP00000229771.6:p.Gly385Arg
ENST00000322263.8:c.994G>A ENSP00000319414.4:p.Gly332Arg
ENST00000373892.4:n.755G>A
ENST00000495781.1:n.329G>A
ENST00000496434.5:n.170G>A
ENST00000614066.4:c.1147G>A ENSP00000477534.1:p.Gly383Arg