Canonical Allele Identifier: CA363781586

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509632A>G , CM000668.2:g.35509632A>G	GRCh38
NC_000006.11:g.35477409A>G , CM000668.1:g.35477409A>G	GRCh37
NC_000006.10:g.35585387A>G	NCBI36
NG_009077.1:g.8239T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.718+2T>C MANE Select	NP_003313.3:n.718+2T>C
ENST00000229771.11:c.718+2T>C MANE Select	ENSP00000229771.6:n.718+2T>C
NM_001289395.1:c.559+2T>C	NP_001276324.1:n.559+2T>C
NM_001289395.2:c.559+2T>C	NP_001276324.1:n.559+2T>C
NM_003322.4:c.718+2T>C	NP_003313.3:n.718+2T>C
NM_003322.5:c.718+2T>C	NP_003313.3:n.718+2T>C
ENST00000229771.10:c.718+2T>C	ENSP00000229771.6:n.718+2T>C
ENST00000322263.8:c.559+2T>C	ENSP00000319414.4:n.559+2T>C
ENST00000373892.4:n.321-320T>C
ENST00000614066.4:c.718+2T>C	ENSP00000477534.1:n.718+2T>C