Canonical Allele Identifier: CA274160

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 188940
• ClinVar RCV Id: RCV000169314 ; RCV001093138 ; RCV002265654
• dbSNP Id: rs786204572
• gnomAD v4: 17-3489249-C-A
• MyVariant Identifiers: chr17:g.3392543C>A (hg19) ; chr17:g.3489249C>A (hg38)
• PubMed: PMID:10909858 ; PMID:12638939 ; PMID:16802711 ; PMID:17194761 ; PMID:21907889 ; PMID:22750302 ; PMID:22850825 ; PMID:23233226

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3489249C>A , CM000679.2:g.3489249C>A	GRCh38
NC_000017.10:g.3392543C>A , CM000679.1:g.3392543C>A	GRCh37
NC_000017.9:g.3339293C>A	NCBI36
NG_008399.1:g.20140C>A
NG_008399.2:g.20604C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.541C>A (ASPA) MANE Select	ENSP00000263080.2:p.Pro181Thr
ENST00000263080.2:c.541C>A (ASPA)	ENSP00000263080.2:p.Pro181Thr
ENST00000456349.6:c.541C>A (ASPA)	ENSP00000409976.2:p.Pro181Thr
ENST00000541913.5:c.-73-19851G>T (SPATA22)	ENSP00000441920.1:n.-73-19851G>T
ENST00000570318.1:c.-73-19851G>T (SPATA22)	ENSP00000459147.1:n.-73-19851G>T
ENST00000571278.1:c.*275C>A (ASPA)	ENSP00000461358.1:n.*275C>A
NM_000049.2:c.541C>A (ASPA)	NP_000040.1:p.Pro181Thr
NM_001128085.1:c.541C>A (ASPA)	NP_001121557.1:p.Pro181Thr
XM_005256829.1:c.-73-19851G>T (SPATA22)	XP_005256886.1:n.-73-19851G>T
XM_005256830.1:c.-73-19851G>T (SPATA22)	XP_005256887.1:n.-73-19851G>T
XM_006721527.2:c.541C>A (ASPA)	XP_006721590.1:p.Pro181Thr
XR_934026.1:n.716C>A (ASPA)
NM_001321336.1:c.-73-19851G>T (SPATA22)	NP_001308265.1:n.-73-19851G>T
NM_001321337.1:c.-73-19851G>T (SPATA22)	NP_001308266.1:n.-73-19851G>T
XM_017024661.1:c.541C>A (ASPA)	XP_016880150.1:p.Pro181Thr
XM_024450764.1:c.541C>A (ASPA)	XP_024306532.1:p.Pro181Thr
XR_934026.2:n.716C>A (ASPA)
NM_000049.3:c.541C>A (ASPA)	NP_000040.1:p.Pro181Thr
NM_000049.4:c.541C>A (ASPA) MANE Select	NP_000040.1:p.Pro181Thr
NM_001321336.2:c.-73-19851G>T (SPATA22)	NP_001308265.1:n.-73-19851G>T
NM_001321337.2:c.-73-19851G>T (SPATA22)	NP_001308266.1:n.-73-19851G>T