Canonical Allele Identifier: CA3772701

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35505806A>C , CM000668.2:g.35505806A>C	GRCh38
NC_000006.11:g.35473583A>C , CM000668.1:g.35473583A>C	GRCh37
NC_000006.10:g.35581561A>C	NCBI36
NG_009077.1:g.12065T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1047T>G MANE Select	NP_003313.3:p.Asn349Lys
ENST00000229771.11:c.1047T>G MANE Select	ENSP00000229771.6:p.Asn349Lys
NM_001289395.1:c.888T>G	NP_001276324.1:p.Asn296Lys
NM_001289395.2:c.888T>G	NP_001276324.1:p.Asn296Lys
NM_003322.4:c.1047T>G	NP_003313.3:p.Asn349Lys
NM_003322.5:c.1047T>G	NP_003313.3:p.Asn349Lys
ENST00000229771.10:c.1047T>G	ENSP00000229771.6:p.Asn349Lys
ENST00000322263.8:c.888T>G	ENSP00000319414.4:p.Asn296Lys
ENST00000373892.4:n.649T>G
ENST00000496434.5:n.64T>G
ENST00000614066.4:c.1041T>G	ENSP00000477534.1:p.Asn347Lys