Canonical Allele Identifier: CA363779654
Community Standard Title: NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35505766C>T , CM000668.2:g.35505766C>T GRCh38
NC_000006.11:g.35473543C>T , CM000668.1:g.35473543C>T GRCh37
NC_000006.10:g.35581521C>T NCBI36
NG_009077.1:g.12105G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003322.6:c.1087G>A MANE Select NP_003313.3:p.Gly363Arg
ENST00000229771.11:c.1087G>A MANE Select ENSP00000229771.6:p.Gly363Arg
NM_001289395.1:c.928G>A NP_001276324.1:p.Gly310Arg
NM_001289395.2:c.928G>A NP_001276324.1:p.Gly310Arg
NM_003322.4:c.1087G>A NP_003313.3:p.Gly363Arg
NM_003322.5:c.1087G>A NP_003313.3:p.Gly363Arg
ENST00000229771.10:c.1087G>A ENSP00000229771.6:p.Gly363Arg
ENST00000322263.8:c.928G>A ENSP00000319414.4:p.Gly310Arg
ENST00000373892.4:n.689G>A
ENST00000496434.5:n.104G>A
ENST00000614066.4:c.1081G>A ENSP00000477534.1:p.Gly361Arg