Canonical Allele Identifier: CA10612046

Gene: SUMO1

Linked Data

• ClinVar Variation Id: 333611
• ClinVar RCV Id: RCV000321100
• dbSNP Id: rs886055457
• gnomAD v3: 2-202206529-T-C
• gnomAD v4: 2-202206529-T-C
• MyVariant Identifiers: chr2:g.203071252T>C (hg19) ; chr2:g.202206529T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202206529T>C , CM000664.2:g.202206529T>C	GRCh38
NC_000002.11:g.203071252T>C , CM000664.1:g.203071252T>C	GRCh37
NC_000002.10:g.202779497T>C	NCBI36
NG_011679.1:g.37071A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392246.7:c.*724A>G MANE Select	ENSP00000376077.2:n.*724A>G
ENST00000392245.5:c.*275A>G	ENSP00000376076.1:n.*275A>G
ENST00000392246.6:c.*724A>G	ENSP00000376077.2:n.*724A>G
NM_001005781.1:c.*275A>G	NP_001005781.1:n.*275A>G
NM_001005782.1:c.*724A>G	NP_001005782.1:n.*724A>G
NM_003352.4:c.*724A>G	NP_003343.1:n.*724A>G
NM_001005781.2:c.*275A>G	NP_001005781.1:n.*275A>G
NM_001005782.2:c.*724A>G	NP_001005782.1:n.*724A>G
NM_001371392.1:c.*724A>G	NP_001358321.1:n.*724A>G
NM_001371393.1:c.*724A>G	NP_001358322.1:n.*724A>G
NM_001371394.1:c.*724A>G	NP_001358323.1:n.*724A>G
NM_003352.8:c.*724A>G MANE Select	NP_003343.1:n.*724A>G
NR_163943.1:n.949A>G