Canonical Allele Identifier: CA214694

Gene: DRC1

Linked Data

• ClinVar Variation Id: 55839
• ClinVar RCV Id: RCV000049260
• dbSNP Id: rs587776997
• MyVariant Identifiers: chr2:g.26677651A>T (hg19) ; chr2:g.26454783A>T (hg38)
• PubMed: PMID:20301301 ; PMID:23354437

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26454783A>T , CM000664.2:g.26454783A>T	GRCh38
NC_000002.11:g.26677651A>T , CM000664.1:g.26677651A>T	GRCh37
NC_000002.10:g.26531155A>T	NCBI36
NG_042824.1:g.57872A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288710.7:c.2056A>T MANE Select	ENSP00000288710.2:p.Lys686Ter
ENST00000649059.1:c.1902A>T
ENST00000288710.6:c.2056A>T	ENSP00000288710.2:p.Lys686Ter
NM_145038.3:c.2056A>T	NP_659475.2:p.Lys686Ter
NM_145038.4:c.2056A>T	NP_659475.2:p.Lys686Ter
XM_005264637.3:c.1438A>T	XP_005264694.1:p.Lys480Ter
XM_005264638.3:c.1036A>T	XP_005264695.1:p.Lys346Ter
XM_017005271.1:c.1036A>T	XP_016860760.1:p.Lys346Ter
XM_024453218.1:c.1036A>T	XP_024308986.1:p.Lys346Ter
NM_145038.5:c.2056A>T MANE Select	NP_659475.2:p.Lys686Ter