Canonical Allele Identifier: CA544606
Gene: PRDM16 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3417922C>A , CM000663.2:g.3417922C>A GRCh38
NC_000001.10:g.3334486C>A , CM000663.1:g.3334486C>A GRCh37
NC_000001.9:g.3324346C>A NCBI36
NG_029576.1:g.353745C>A
NG_029576.2:g.353745C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270722.10:c.2786C>A MANE Select ENSP00000270722.5:p.Pro929His
ENST00000270722.9:c.2786C>A ENSP00000270722.5:p.Pro929His
ENST00000378391.6:c.2786C>A ENSP00000367643.2:p.Pro929His
ENST00000509860.1:c.2210C>A ENSP00000425796.1:p.Pro737His
ENST00000511072.5:c.2789C>A ENSP00000426975.1:p.Pro930His
ENST00000512462.5:n.2564C>A
ENST00000514189.5:c.2786C>A ENSP00000421400.1:p.Pro929His
NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His
NM_199454.2:c.2786C>A NP_955533.2:p.Pro929His
XM_005244772.3:c.2789C>A XP_005244829.1:p.Pro930His
XM_005244773.3:c.2789C>A XP_005244830.1:p.Pro930His
XM_005244774.3:c.2789C>A XP_005244831.1:p.Pro930His
XM_006710814.2:c.2786C>A XP_006710877.1:p.Pro929His
XM_011541944.1:c.2789C>A XP_011540246.1:p.Pro930His
XM_011541945.1:c.2234C>A XP_011540247.1:p.Pro745His
XM_005244772.5:c.2789C>A XP_005244829.1:p.Pro930His
XM_005244773.5:c.2789C>A XP_005244830.1:p.Pro930His
XM_005244774.5:c.2789C>A XP_005244831.1:p.Pro930His
XM_006710814.4:c.2786C>A XP_006710877.1:p.Pro929His
XM_011541945.2:c.2234C>A XP_011540247.1:p.Pro745His
XM_017002050.1:c.2783C>A XP_016857539.1:p.Pro928His
NM_022114.4:c.2786C>A MANE Select NP_071397.3:p.Pro929His
NM_199454.3:c.2786C>A NP_955533.2:p.Pro929His