Canonical Allele Identifier: CA363780326

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506112C>G , CM000668.2:g.35506112C>G	GRCh38
NC_000006.11:g.35473889C>G , CM000668.1:g.35473889C>G	GRCh37
NC_000006.10:g.35581867C>G	NCBI36
NG_009077.1:g.11759G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.890G>C MANE Select	NP_003313.3:p.Arg297Pro
ENST00000229771.11:c.890G>C MANE Select	ENSP00000229771.6:p.Arg297Pro
NM_001289395.1:c.731G>C	NP_001276324.1:p.Arg244Pro
NM_001289395.2:c.731G>C	NP_001276324.1:p.Arg244Pro
NM_003322.4:c.890G>C	NP_003313.3:p.Arg297Pro
NM_003322.5:c.890G>C	NP_003313.3:p.Arg297Pro
ENST00000229771.10:c.890G>C	ENSP00000229771.6:p.Arg297Pro
ENST00000322263.8:c.731G>C	ENSP00000319414.4:p.Arg244Pro
ENST00000373892.4:n.492G>C
ENST00000614066.4:c.884G>C	ENSP00000477534.1:p.Arg295Pro