Canonical Allele Identifier: CA7939475

Gene: UMOD

Linked Data

• dbSNP Id: rs763212690
• ExAC: 16:20360373 C / T
• gnomAD v2: 16-20360373-C-T
• gnomAD v4: 16-20349051-C-T
• COSMIC: COSM4739184 ; COSM4739185
• MyVariant Identifiers: chr16:g.20360373C>T (hg19) ; chr16:g.20349051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20349051C>T , CM000678.2:g.20349051C>T	GRCh38
NC_000016.9:g.20360373C>T , CM000678.1:g.20360373C>T	GRCh37
NC_000016.8:g.20267874C>T	NCBI36
NG_008151.1:g.8665G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000396138.9:c.250G>A MANE Select	ENSP00000379442.5:p.Val84Ile
ENST00000577168.2:c.250G>A	ENSP00000459738.2:p.Val84Ile
ENST00000302509.8:c.250G>A	ENSP00000306279.4:p.Val84Ile
ENST00000396134.6:c.349G>A	ENSP00000379438.2:p.Val117Ile
ENST00000396138.8:c.397G>A	ENSP00000379442.4:p.Val133Ile
ENST00000570689.5:c.250G>A	ENSP00000460548.1:p.Val84Ile
ENST00000570757.5:c.250G>A	ENSP00000459724.1:p.Val84Ile
ENST00000571174.5:c.250G>A	ENSP00000458939.1:p.Val84Ile
ENST00000573567.5:c.319G>A	ENSP00000460374.1:p.Val107Ile
ENST00000574195.5:c.412G>A	ENSP00000460845.1:p.Val138Ile
ENST00000576546.1:c.250G>A	ENSP00000461120.1:p.Val84Ile
ENST00000576688.2:c.250G>A	ENSP00000461641.1:p.Val84Ile
ENST00000577168.1:c.334G>A	ENSP00000459738.1:p.Val112Ile
NM_001008389.2:c.250G>A	NP_001008390.1:p.Val84Ile
NM_001278614.1:c.349G>A	NP_001265543.1:p.Val117Ile
NM_003361.3:c.250G>A	NP_003352.2:p.Val84Ile
XM_011545934.1:c.334G>A	XP_011544236.1:p.Val112Ile
XM_011545935.1:c.250G>A	XP_011544237.1:p.Val84Ile
XM_011545936.1:c.250G>A	XP_011544238.1:p.Val84Ile
XM_011545937.1:c.250G>A	XP_011544239.1:p.Val84Ile
XM_011545938.1:c.250G>A	XP_011544240.1:p.Val84Ile
XM_011545939.1:c.334G>A	XP_011544241.1:p.Val112Ile
XM_011545940.1:c.397G>A	XP_011544242.1:p.Val133Ile
XM_011545934.2:c.250G>A	XP_011544236.2:p.Val84Ile
XM_011545940.2:c.250G>A	XP_011544242.2:p.Val84Ile
XM_024450433.1:c.250G>A	XP_024306201.1:p.Val84Ile
NM_001008389.3:c.250G>A	NP_001008390.1:p.Val84Ile
NM_001278614.2:c.349G>A	NP_001265543.1:p.Val117Ile
NM_001378232.1:c.250G>A	NP_001365161.1:p.Val84Ile
NM_001378233.1:c.250G>A	NP_001365162.1:p.Val84Ile
NM_001378234.1:c.250G>A	NP_001365163.1:p.Val84Ile
NM_001378235.1:c.250G>A	NP_001365164.1:p.Val84Ile
NM_001378237.1:c.250G>A	NP_001365166.1:p.Val84Ile
NM_003361.4:c.250G>A MANE Select	NP_003352.2:p.Val84Ile
NR_165456.1:n.475G>A