Canonical Allele Identifier: CA543937

Gene: PRDM16

Linked Data

• ClinVar Variation Id: 487582
• ClinVar RCV Id: RCV000656141 ; RCV000864128 ; RCV001584393 ; RCV003905498
• dbSNP Id: rs185041492
• ExAC: 1:3319384 G / A
• gnomAD v2: 1-3319384-G-A
• gnomAD v3: 1-3402820-G-A
• gnomAD v4: 1-3402820-G-A
• MyVariant Identifiers: chr1:g.3319384G>A (hg19) ; chr1:g.3402820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3402820G>A , CM000663.2:g.3402820G>A	GRCh38
NC_000001.10:g.3319384G>A , CM000663.1:g.3319384G>A	GRCh37
NC_000001.9:g.3309244G>A	NCBI36
NG_029576.1:g.338643G>A
NG_029576.2:g.338643G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000270722.10:c.706G>A MANE Select	ENSP00000270722.5:p.Asp236Asn
ENST00000270722.9:c.706G>A	ENSP00000270722.5:p.Asp236Asn
ENST00000378391.6:c.706G>A	ENSP00000367643.2:p.Asp236Asn
ENST00000509860.1:c.133G>A	ENSP00000425796.1:p.Asp45Asn
ENST00000511072.5:c.709G>A	ENSP00000426975.1:p.Asp237Asn
ENST00000512462.5:n.484G>A
ENST00000514189.5:c.709G>A	ENSP00000421400.1:p.Asp237Asn
NM_022114.3:c.706G>A	NP_071397.3:p.Asp236Asn
NM_199454.2:c.706G>A	NP_955533.2:p.Asp236Asn
XM_005244772.3:c.709G>A	XP_005244829.1:p.Asp237Asn
XM_005244773.3:c.709G>A	XP_005244830.1:p.Asp237Asn
XM_005244774.3:c.709G>A	XP_005244831.1:p.Asp237Asn
XM_006710814.2:c.709G>A	XP_006710877.1:p.Asp237Asn
XM_011541944.1:c.709G>A	XP_011540246.1:p.Asp237Asn
XM_011541945.1:c.154G>A	XP_011540247.1:p.Asp52Asn
XM_005244772.5:c.709G>A	XP_005244829.1:p.Asp237Asn
XM_005244773.5:c.709G>A	XP_005244830.1:p.Asp237Asn
XM_005244774.5:c.709G>A	XP_005244831.1:p.Asp237Asn
XM_006710814.4:c.709G>A	XP_006710877.1:p.Asp237Asn
XM_011541945.2:c.154G>A	XP_011540247.1:p.Asp52Asn
XM_017002050.1:c.706G>A	XP_016857539.1:p.Asp236Asn
NM_022114.4:c.706G>A MANE Select	NP_071397.3:p.Asp236Asn
NM_199454.3:c.706G>A	NP_955533.2:p.Asp236Asn