Canonical Allele Identifier: CA3772610

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35503624G>A , CM000668.2:g.35503624G>A	GRCh38
NC_000006.11:g.35471401G>A , CM000668.1:g.35471401G>A	GRCh37
NC_000006.10:g.35579379G>A	NCBI36
NG_009077.1:g.14247C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.1258C>T MANE Select	NP_003313.3:p.Arg420Cys
ENST00000229771.11:c.1258C>T MANE Select	ENSP00000229771.6:p.Arg420Cys
NM_001289395.1:c.1099C>T	NP_001276324.1:p.Arg367Cys
NM_001289395.2:c.1099C>T	NP_001276324.1:p.Arg367Cys
NM_003322.4:c.1258C>T	NP_003313.3:p.Arg420Cys
NM_003322.5:c.1258C>T	NP_003313.3:p.Arg420Cys
ENST00000229771.10:c.1258C>T	ENSP00000229771.6:p.Arg420Cys
ENST00000322263.8:c.1099C>T	ENSP00000319414.4:p.Arg367Cys
ENST00000495781.1:n.434C>T
ENST00000496434.5:n.275C>T
ENST00000614066.4:c.1252C>T	ENSP00000477534.1:p.Arg418Cys