Canonical Allele Identifier: CA3772633

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503792C>T , CM000668.2:g.35503792C>T	GRCh38
NC_000006.11:g.35471569C>T , CM000668.1:g.35471569C>T	GRCh37
NC_000006.10:g.35579547C>T	NCBI36
NG_009077.1:g.14079G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1169G>A MANE Select	NP_003313.3:p.Arg390His
ENST00000229771.11:c.1169G>A MANE Select	ENSP00000229771.6:p.Arg390His
NM_001289395.1:c.1010G>A	NP_001276324.1:p.Arg337His
NM_001289395.2:c.1010G>A	NP_001276324.1:p.Arg337His
NM_003322.4:c.1169G>A	NP_003313.3:p.Arg390His
NM_003322.5:c.1169G>A	NP_003313.3:p.Arg390His
ENST00000229771.10:c.1169G>A	ENSP00000229771.6:p.Arg390His
ENST00000322263.8:c.1010G>A	ENSP00000319414.4:p.Arg337His
ENST00000373892.4:n.771G>A
ENST00000495781.1:n.345G>A
ENST00000496434.5:n.186G>A
ENST00000614066.4:c.1163G>A	ENSP00000477534.1:p.Arg388His