Canonical Allele Identifier: CA239234

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35506041A>C , CM000668.2:g.35506041A>C	GRCh38
NC_000006.11:g.35473818A>C , CM000668.1:g.35473818A>C	GRCh37
NC_000006.10:g.35581796A>C	NCBI36
NG_009077.1:g.11830T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.961T>G MANE Select	NP_003313.3:p.Tyr321Asp
ENST00000229771.11:c.961T>G MANE Select	ENSP00000229771.6:p.Tyr321Asp
NM_001289395.1:c.802T>G	NP_001276324.1:p.Tyr268Asp
NM_001289395.2:c.802T>G	NP_001276324.1:p.Tyr268Asp
NM_003322.4:c.961T>G	NP_003313.3:p.Tyr321Asp
NM_003322.5:c.961T>G	NP_003313.3:p.Tyr321Asp
ENST00000229771.10:c.961T>G	ENSP00000229771.6:p.Tyr321Asp
ENST00000322263.8:c.802T>G	ENSP00000319414.4:p.Tyr268Asp
ENST00000373892.4:n.563T>G
ENST00000614066.4:c.955T>G	ENSP00000477534.1:p.Tyr319Asp