Canonical Allele Identifier: CA2573140329
Community Standard Title: NM_003322.6(TULP1):c.999+5G>A
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35505998C>T , CM000668.2:g.35505998C>T GRCh38
NC_000006.11:g.35473775C>T , CM000668.1:g.35473775C>T GRCh37
NC_000006.10:g.35581753C>T NCBI36
NG_009077.1:g.11873G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003322.6:c.999+5G>A MANE Select NP_003313.3:n.999+5G>A
ENST00000229771.11:c.999+5G>A MANE Select ENSP00000229771.6:n.999+5G>A
NM_001289395.1:c.840+5G>A NP_001276324.1:n.840+5G>A
NM_001289395.2:c.840+5G>A NP_001276324.1:n.840+5G>A
NM_003322.4:c.999+5G>A NP_003313.3:n.999+5G>A
NM_003322.5:c.999+5G>A NP_003313.3:n.999+5G>A
ENST00000229771.10:c.999+5G>A ENSP00000229771.6:n.999+5G>A
ENST00000322263.8:c.840+5G>A ENSP00000319414.4:n.840+5G>A
ENST00000373892.4:n.601+5G>A
ENST00000496434.5:n.16+5G>A
ENST00000614066.4:c.993+5G>A ENSP00000477534.1:n.993+5G>A