Canonical Allele Identifier: CA3772607
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503604A>G , CM000668.2:g.35503604A>G GRCh38
NC_000006.11:g.35471381A>G , CM000668.1:g.35471381A>G GRCh37
NC_000006.10:g.35579359A>G NCBI36
NG_009077.1:g.14267T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1278T>C MANE Select ENSP00000229771.6:p.Pro426=
ENST00000229771.10:c.1278T>C ENSP00000229771.6:p.Pro426=
ENST00000322263.8:c.1119T>C ENSP00000319414.4:p.Pro373=
ENST00000495781.1:n.454T>C
ENST00000496434.5:n.295T>C
ENST00000614066.4:c.1272T>C ENSP00000477534.1:p.Pro424=
NM_001289395.1:c.1119T>C NP_001276324.1:p.Pro373=
NM_003322.4:c.1278T>C NP_003313.3:p.Pro426=
NM_003322.5:c.1278T>C NP_003313.3:p.Pro426=
NM_003322.6:c.1278T>C MANE Select NP_003313.3:p.Pro426=
NM_001289395.2:c.1119T>C NP_001276324.1:p.Pro373=