Canonical Allele Identifier: CA497453919

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 2149418
• ClinVar RCV Id: RCV003065470
• MyVariant Identifiers: chr17:g.3402364T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499070T>A , CM000679.2:g.3499070T>A	GRCh38
NC_000017.10:g.3402364T>A , CM000679.1:g.3402364T>A	GRCh37
NC_000017.9:g.3349114T>A	NCBI36
NG_008399.1:g.29961T>A
NG_008399.2:g.30425T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.924T>A (ASPA) MANE Select	ENSP00000263080.2:p.Ile308=
ENST00000263080.2:c.924T>A (ASPA)	ENSP00000263080.2:p.Ile308=
ENST00000456349.6:c.924T>A (ASPA)	ENSP00000409976.2:p.Ile308=
ENST00000541913.5:c.-74+14342A>T (SPATA22)	ENSP00000441920.1:n.-74+14342A>T
ENST00000570318.1:c.-74+14541A>T (SPATA22)	ENSP00000459147.1:n.-74+14541A>T
NM_000049.2:c.924T>A (ASPA)	NP_000040.1:p.Ile308=
NM_001128085.1:c.924T>A (ASPA)	NP_001121557.1:p.Ile308=
XM_005256829.1:c.-74+14342A>T (SPATA22)	XP_005256886.1:n.-74+14342A>T
XM_005256830.1:c.-74+14342A>T (SPATA22)	XP_005256887.1:n.-74+14342A>T
XM_006721527.2:c.924T>A (ASPA)	XP_006721590.1:p.Ile308=
NM_001321336.1:c.-74+14342A>T (SPATA22)	NP_001308265.1:n.-74+14342A>T
NM_001321337.1:c.-74+14342A>T (SPATA22)	NP_001308266.1:n.-74+14342A>T
XM_017024661.1:c.924T>A (ASPA)	XP_016880150.1:p.Ile308=
XM_024450764.1:c.924T>A (ASPA)	XP_024306532.1:p.Ile308=
XR_934026.2:n.1191T>A (ASPA)
NM_000049.3:c.924T>A (ASPA)	NP_000040.1:p.Ile308=
NM_000049.4:c.924T>A (ASPA) MANE Select	NP_000040.1:p.Ile308=
NM_001321336.2:c.-74+14342A>T (SPATA22)	NP_001308265.1:n.-74+14342A>T
NM_001321337.2:c.-74+14342A>T (SPATA22)	NP_001308266.1:n.-74+14342A>T