Canonical Allele Identifier: CA1562511

Gene: DRC1

Linked Data

• ClinVar Variation Id: 525259
• ClinVar RCV Id: RCV000629310 ; RCV003117438
• dbSNP Id: rs201260214
• ExAC: 2:26678010 C / G
• gnomAD v2: 2-26678010-C-G
• gnomAD v3: 2-26455142-C-G
• gnomAD v4: 2-26455142-C-G
• MyVariant Identifiers: chr2:g.26678010C>G (hg19) ; chr2:g.26678010_26678018delinsGCCAGAGGG (hg19) ; chr2:g.26455142C>G (hg38) ; chr2:g.26455142_26455150delinsGCCAGAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26455142C>G , CM000664.2:g.26455142C>G	GRCh38
NC_000002.11:g.26678010C>G , CM000664.1:g.26678010C>G	GRCh37
NC_000002.10:g.26531514C>G	NCBI36
NG_042824.1:g.58231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.2075C>G MANE Select	ENSP00000288710.2:p.Thr692Ser
ENST00000649059.1:c.1921C>G
ENST00000288710.6:c.2075C>G	ENSP00000288710.2:p.Thr692Ser
NM_145038.3:c.2075C>G	NP_659475.2:p.Thr692Ser
NM_145038.4:c.2075C>G	NP_659475.2:p.Thr692Ser
XM_005264637.3:c.1457C>G	XP_005264694.1:p.Thr486Ser
XM_005264638.3:c.1055C>G	XP_005264695.1:p.Thr352Ser
XM_017005271.1:c.1055C>G	XP_016860760.1:p.Thr352Ser
XM_024453218.1:c.1055C>G	XP_024308986.1:p.Thr352Ser
NM_145038.5:c.2075C>G MANE Select	NP_659475.2:p.Thr692Ser