Canonical Allele Identifier: CA144647
Gene: PRDM16 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.3414616T>C , CM000663.2:g.3414616T>C GRCh38
NC_000001.10:g.3331180T>C , CM000663.1:g.3331180T>C GRCh37
NC_000001.9:g.3321040T>C NCBI36
NG_029576.1:g.350439T>C
NG_029576.2:g.350439T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270722.10:c.2660T>C MANE Select ENSP00000270722.5:p.Leu887Pro
ENST00000270722.9:c.2660T>C ENSP00000270722.5:p.Leu887Pro
ENST00000378391.6:c.2660T>C ENSP00000367643.2:p.Leu887Pro
ENST00000509860.1:c.2084T>C ENSP00000425796.1:p.Leu695Pro
ENST00000511072.5:c.2663T>C ENSP00000426975.1:p.Leu888Pro
ENST00000512462.5:n.2438T>C
ENST00000514189.5:c.2660T>C ENSP00000421400.1:p.Leu887Pro
NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro
NM_199454.2:c.2660T>C NP_955533.2:p.Leu887Pro
XM_005244772.3:c.2663T>C XP_005244829.1:p.Leu888Pro
XM_005244773.3:c.2663T>C XP_005244830.1:p.Leu888Pro
XM_005244774.3:c.2663T>C XP_005244831.1:p.Leu888Pro
XM_006710814.2:c.2660T>C XP_006710877.1:p.Leu887Pro
XM_011541944.1:c.2663T>C XP_011540246.1:p.Leu888Pro
XM_011541945.1:c.2108T>C XP_011540247.1:p.Leu703Pro
XM_005244772.5:c.2663T>C XP_005244829.1:p.Leu888Pro
XM_005244773.5:c.2663T>C XP_005244830.1:p.Leu888Pro
XM_005244774.5:c.2663T>C XP_005244831.1:p.Leu888Pro
XM_006710814.4:c.2660T>C XP_006710877.1:p.Leu887Pro
XM_011541945.2:c.2108T>C XP_011540247.1:p.Leu703Pro
XM_017002050.1:c.2657T>C XP_016857539.1:p.Leu886Pro
NM_022114.4:c.2660T>C MANE Select NP_071397.3:p.Leu887Pro
NM_199454.3:c.2660T>C NP_955533.2:p.Leu887Pro