Canonical Allele Identifier: CA566703185
Community Standard Title: NM_003322.6(TULP1):c.1112+8T>C
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35505733A>G , CM000668.2:g.35505733A>G GRCh38
NC_000006.11:g.35473510A>G , CM000668.1:g.35473510A>G GRCh37
NC_000006.10:g.35581488A>G NCBI36
NG_009077.1:g.12138T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003322.6:c.1112+8T>C MANE Select NP_003313.3:n.1112+8T>C
ENST00000229771.11:c.1112+8T>C MANE Select ENSP00000229771.6:n.1112+8T>C
NM_001289395.1:c.953+8T>C NP_001276324.1:n.953+8T>C
NM_001289395.2:c.953+8T>C NP_001276324.1:n.953+8T>C
NM_003322.4:c.1112+8T>C NP_003313.3:n.1112+8T>C
NM_003322.5:c.1112+8T>C NP_003313.3:n.1112+8T>C
ENST00000229771.10:c.1112+8T>C ENSP00000229771.6:n.1112+8T>C
ENST00000322263.8:c.953+8T>C ENSP00000319414.4:n.953+8T>C
ENST00000373892.4:n.714+8T>C
ENST00000496434.5:n.129+8T>C
ENST00000614066.4:c.1106+8T>C ENSP00000477534.1:n.1106+8T>C