Canonical Allele Identifier: CA337573741
Gene: TBL1Y HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.7086429C>A
GRCh37 chrY:g.6954470C>A
gnomAD v3:
Y:7086429 C / A
gnomAD v4:
chrY-7086429-C-A
Joint Max Group AF 0.00017255 (AFR)
Genomes Max Group AF 0.00030766 (AFR)
dbSNP:
35623864
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7086429C>A , CM000686.2:g.7086429C>A GRCh38
NC_000024.9:g.6954470C>A , CM000686.1:g.6954470C>A GRCh37
NC_000024.8:g.7014470C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.1280+12C>A MANE Select ENSP00000372499.1:n.1280+12C>A
ENST00000651523.1:c.37+12C>A
ENST00000346432.3:c.1280+12C>A ENSP00000328879.4:n.1280+12C>A
ENST00000355162.6:c.1280+12C>A ENSP00000347289.2:n.1280+12C>A
ENST00000383032.5:c.1280+12C>A ENSP00000372499.1:n.1280+12C>A
NM_033284.1:c.1280+12C>A NP_150600.1:n.1280+12C>A
NM_134258.1:c.1280+12C>A NP_599020.1:n.1280+12C>A
NM_134259.1:c.1280+12C>A NP_599021.1:n.1280+12C>A
XM_005262572.2:c.1322+12C>A XP_005262629.1:n.1322+12C>A
XM_005262572.3:c.1322+12C>A XP_005262629.1:n.1322+12C>A
XM_017030086.1:c.1280+12C>A XP_016885575.1:n.1280+12C>A
XM_017030087.1:c.1280+12C>A XP_016885576.1:n.1280+12C>A
XM_024452497.1:c.1280+12C>A XP_024308265.1:n.1280+12C>A
NM_033284.2:c.1280+12C>A MANE Select NP_150600.1:n.1280+12C>A
NM_134258.2:c.1280+12C>A NP_599020.1:n.1280+12C>A
NM_134259.2:c.1280+12C>A NP_599021.1:n.1280+12C>A
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