Canonical Allele Identifier: CA1001184

Gene: CD53 LRIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.110896653C>G , CM000663.2:g.110896653C>G	GRCh38
NC_000001.10:g.111439275C>G , CM000663.1:g.111439275C>G	GRCh37
NC_000001.9:g.111240798C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000560.4:c.424C>G (CD53) MANE Select	NP_000551.1:p.Leu142Val
ENST00000271324.6:c.424C>G (CD53) MANE Select	ENSP00000271324.5:p.Leu142Val
NM_000560.3:c.424C>G (CD53)	NP_000551.1:p.Leu142Val
NM_001040033.1:c.424C>G (CD53)	NP_001035122.1:p.Leu142Val
NM_001040033.2:c.424C>G (CD53)	NP_001035122.1:p.Leu142Val
NM_001320638.1:c.328-1156C>G (CD53)	NP_001307567.1:n.328-1156C>G
NM_001320638.2:c.328-1156C>G (CD53)	NP_001307567.1:n.328-1156C>G
ENST00000271324.5:c.424C>G (CD53)	ENSP00000271324.5:p.Leu142Val
ENST00000476408.1:n.366-2471C>G (CD53)
ENST00000497404.1:n.189+1598C>G (CD53)
ENST00000648608.1:c.424C>G (CD53)	ENSP00000497382.1:p.Leu142Val
XM_006711053.2:c.424-1156C>G (CD53)	XP_006711116.1:n.424-1156C>G
XM_011542447.1:c.327+2252C>G (CD53)	XP_011540749.1:n.327+2252C>G
XM_017001769.2:c.1870-18968G>C (LRIF1)	XP_016857258.1:n.1870-18968G>C
XM_024451057.1:c.421C>G (CD53)	XP_024306825.1:p.Leu141Val
XR_947702.1:n.1605-5809G>C