Canonical Allele Identifier: CA252354

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 2606
• ClinVar RCV Id: RCV000002724 ; RCV003387712
• dbSNP Id: rs104894548
• MyVariant Identifiers: chr17:g.3386814T>C (hg19) ; chr17:g.3483520T>C (hg38)
• PubMed: PMID:7599639

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3483520T>C , CM000679.2:g.3483520T>C	GRCh38
NC_000017.10:g.3386814T>C , CM000679.1:g.3386814T>C	GRCh37
NC_000017.9:g.3333564T>C	NCBI36
NG_008399.1:g.14411T>C
NG_008399.2:g.14875T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.454T>C (ASPA) MANE Select	ENSP00000263080.2:p.Cys152Arg
ENST00000263080.2:c.454T>C (ASPA)	ENSP00000263080.2:p.Cys152Arg
ENST00000456349.6:c.454T>C (ASPA)	ENSP00000409976.2:p.Cys152Arg
ENST00000541913.5:c.-73-14122A>G (SPATA22)	ENSP00000441920.1:n.-73-14122A>G
ENST00000570318.1:c.-73-14122A>G (SPATA22)	ENSP00000459147.1:n.-73-14122A>G
ENST00000571278.1:c.*188T>C (ASPA)	ENSP00000461358.1:n.*188T>C
NM_000049.2:c.454T>C (ASPA)	NP_000040.1:p.Cys152Arg
NM_001128085.1:c.454T>C (ASPA)	NP_001121557.1:p.Cys152Arg
XM_005256829.1:c.-73-14122A>G (SPATA22)	XP_005256886.1:n.-73-14122A>G
XM_005256830.1:c.-73-14122A>G (SPATA22)	XP_005256887.1:n.-73-14122A>G
XM_006721527.2:c.454T>C (ASPA)	XP_006721590.1:p.Cys152Arg
XR_934026.1:n.629T>C (ASPA)
NM_001321336.1:c.-73-14122A>G (SPATA22)	NP_001308265.1:n.-73-14122A>G
NM_001321337.1:c.-73-14122A>G (SPATA22)	NP_001308266.1:n.-73-14122A>G
XM_017024661.1:c.454T>C (ASPA)	XP_016880150.1:p.Cys152Arg
XM_024450764.1:c.454T>C (ASPA)	XP_024306532.1:p.Cys152Arg
XR_934026.2:n.629T>C (ASPA)
NM_000049.3:c.454T>C (ASPA)	NP_000040.1:p.Cys152Arg
NM_000049.4:c.454T>C (ASPA) MANE Select	NP_000040.1:p.Cys152Arg
NM_001321336.2:c.-73-14122A>G (SPATA22)	NP_001308265.1:n.-73-14122A>G
NM_001321337.2:c.-73-14122A>G (SPATA22)	NP_001308266.1:n.-73-14122A>G