Canonical Allele Identifier: CA363779475
Community Standard Title: NM_003322.6(TULP1):c.1113-1G>T
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35503849C>A , CM000668.2:g.35503849C>A GRCh38
NC_000006.11:g.35471626C>A , CM000668.1:g.35471626C>A GRCh37
NC_000006.10:g.35579604C>A NCBI36
NG_009077.1:g.14022G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003322.6:c.1113-1G>T MANE Select NP_003313.3:n.1113-1G>T
ENST00000229771.11:c.1113-1G>T MANE Select ENSP00000229771.6:n.1113-1G>T
NM_001289395.1:c.954-1G>T NP_001276324.1:n.954-1G>T
NM_001289395.2:c.954-1G>T NP_001276324.1:n.954-1G>T
NM_003322.4:c.1113-1G>T NP_003313.3:n.1113-1G>T
NM_003322.5:c.1113-1G>T NP_003313.3:n.1113-1G>T
ENST00000229771.10:c.1113-1G>T ENSP00000229771.6:n.1113-1G>T
ENST00000322263.8:c.954-1G>T ENSP00000319414.4:n.954-1G>T
ENST00000373892.4:n.715-1G>T
ENST00000495781.1:n.288G>T
ENST00000496434.5:n.130-1G>T
ENST00000614066.4:c.1107-1G>T ENSP00000477534.1:n.1107-1G>T