Canonical Allele Identifier: CA543683

Gene: PRDM16

Linked Data

• ClinVar Variation Id: 474437
• ClinVar RCV Id: RCV000548450 ; RCV000615310 ; RCV001696956 ; RCV003935513
• dbSNP Id: rs183153140
• ExAC: 1:3102700 G / A
• gnomAD v2: 1-3102700-G-A
• gnomAD v3: 1-3186136-G-A
• gnomAD v4: 1-3186136-G-A
• COSMIC: COSM464418
• MyVariant Identifiers: chr1:g.3102700G>A (hg19) ; chr1:g.3186136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3186136G>A , CM000663.2:g.3186136G>A	GRCh38
NC_000001.10:g.3102700G>A , CM000663.1:g.3102700G>A	GRCh37
NC_000001.9:g.3092560G>A	NCBI36
NG_029576.1:g.121959G>A
NG_029576.2:g.121959G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000270722.10:c.49G>A MANE Select	ENSP00000270722.5:p.Val17Ile
ENST00000270722.9:c.49G>A	ENSP00000270722.5:p.Val17Ile
ENST00000378391.6:c.49G>A	ENSP00000367643.2:p.Val17Ile
ENST00000511072.5:c.49G>A	ENSP00000426975.1:p.Val17Ile
ENST00000514189.5:c.49G>A	ENSP00000421400.1:p.Val17Ile
ENST00000607632.1:n.126G>A
NM_022114.3:c.49G>A	NP_071397.3:p.Val17Ile
NM_199454.2:c.49G>A	NP_955533.2:p.Val17Ile
XM_005244772.3:c.49G>A	XP_005244829.1:p.Val17Ile
XM_005244773.3:c.49G>A	XP_005244830.1:p.Val17Ile
XM_005244774.3:c.49G>A	XP_005244831.1:p.Val17Ile
XM_006710814.2:c.49G>A	XP_006710877.1:p.Val17Ile
XM_011541944.1:c.49G>A	XP_011540246.1:p.Val17Ile
XM_005244772.5:c.49G>A	XP_005244829.1:p.Val17Ile
XM_005244773.5:c.49G>A	XP_005244830.1:p.Val17Ile
XM_005244774.5:c.49G>A	XP_005244831.1:p.Val17Ile
XM_006710814.4:c.49G>A	XP_006710877.1:p.Val17Ile
XM_017002050.1:c.49G>A	XP_016857539.1:p.Val17Ile
NM_022114.4:c.49G>A MANE Select	NP_071397.3:p.Val17Ile
NM_199454.3:c.49G>A	NP_955533.2:p.Val17Ile