Canonical Allele Identifier: CA338002995

Gene: PRDM16

Linked Data

• gnomAD v4: 1-3402805-C-A
• MyVariant Identifiers: chr1:g.3319369C>A (hg19) ; chr1:g.3402805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3402805C>A , CM000663.2:g.3402805C>A	GRCh38
NC_000001.10:g.3319369C>A , CM000663.1:g.3319369C>A	GRCh37
NC_000001.9:g.3309229C>A	NCBI36
NG_029576.1:g.338628C>A
NG_029576.2:g.338628C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270722.10:c.691C>A MANE Select	ENSP00000270722.5:p.Arg231Ser
ENST00000270722.9:c.691C>A	ENSP00000270722.5:p.Arg231Ser
ENST00000378391.6:c.691C>A	ENSP00000367643.2:p.Arg231Ser
ENST00000509860.1:c.118C>A	ENSP00000425796.1:p.Arg40Ser
ENST00000511072.5:c.694C>A	ENSP00000426975.1:p.Arg232Ser
ENST00000512462.5:n.469C>A
ENST00000514189.5:c.694C>A	ENSP00000421400.1:p.Arg232Ser
NM_022114.3:c.691C>A	NP_071397.3:p.Arg231Ser
NM_199454.2:c.691C>A	NP_955533.2:p.Arg231Ser
XM_005244772.3:c.694C>A	XP_005244829.1:p.Arg232Ser
XM_005244773.3:c.694C>A	XP_005244830.1:p.Arg232Ser
XM_005244774.3:c.694C>A	XP_005244831.1:p.Arg232Ser
XM_006710814.2:c.694C>A	XP_006710877.1:p.Arg232Ser
XM_011541944.1:c.694C>A	XP_011540246.1:p.Arg232Ser
XM_011541945.1:c.139C>A	XP_011540247.1:p.Arg47Ser
XM_005244772.5:c.694C>A	XP_005244829.1:p.Arg232Ser
XM_005244773.5:c.694C>A	XP_005244830.1:p.Arg232Ser
XM_005244774.5:c.694C>A	XP_005244831.1:p.Arg232Ser
XM_006710814.4:c.694C>A	XP_006710877.1:p.Arg232Ser
XM_011541945.2:c.139C>A	XP_011540247.1:p.Arg47Ser
XM_017002050.1:c.691C>A	XP_016857539.1:p.Arg231Ser
NM_022114.4:c.691C>A MANE Select	NP_071397.3:p.Arg231Ser
NM_199454.3:c.691C>A	NP_955533.2:p.Arg231Ser