Canonical Allele Identifier: CA8289050

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 1121636
• ClinVar RCV Id: RCV001451956
• dbSNP Id: rs141858640
• ExAC: 17:3402281 G / A
• gnomAD v2: 17-3402281-G-A
• gnomAD v3: 17-3498987-G-A
• gnomAD v4: 17-3498987-G-A
• MyVariant Identifiers: chr17:g.3402281G>A (hg19) ; chr17:g.3498987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498987G>A , CM000679.2:g.3498987G>A	GRCh38
NC_000017.10:g.3402281G>A , CM000679.1:g.3402281G>A	GRCh37
NC_000017.9:g.3349031G>A	NCBI36
NG_008399.1:g.29878G>A
NG_008399.2:g.30342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.841G>A (ASPA) MANE Select	ENSP00000263080.2:p.Val281Met
ENST00000263080.2:c.841G>A (ASPA)	ENSP00000263080.2:p.Val281Met
ENST00000456349.6:c.841G>A (ASPA)	ENSP00000409976.2:p.Val281Met
ENST00000541913.5:c.-74+14425C>T (SPATA22)	ENSP00000441920.1:n.-74+14425C>T
ENST00000570318.1:c.-74+14624C>T (SPATA22)	ENSP00000459147.1:n.-74+14624C>T
NM_000049.2:c.841G>A (ASPA)	NP_000040.1:p.Val281Met
NM_001128085.1:c.841G>A (ASPA)	NP_001121557.1:p.Val281Met
XM_005256829.1:c.-74+14425C>T (SPATA22)	XP_005256886.1:n.-74+14425C>T
XM_005256830.1:c.-74+14425C>T (SPATA22)	XP_005256887.1:n.-74+14425C>T
XM_006721527.2:c.841G>A (ASPA)	XP_006721590.1:p.Val281Met
NM_001321336.1:c.-74+14425C>T (SPATA22)	NP_001308265.1:n.-74+14425C>T
NM_001321337.1:c.-74+14425C>T (SPATA22)	NP_001308266.1:n.-74+14425C>T
XM_017024661.1:c.841G>A (ASPA)	XP_016880150.1:p.Val281Met
XM_024450764.1:c.841G>A (ASPA)	XP_024306532.1:p.Val281Met
XR_934026.2:n.1108G>A (ASPA)
NM_000049.3:c.841G>A (ASPA)	NP_000040.1:p.Val281Met
NM_000049.4:c.841G>A (ASPA) MANE Select	NP_000040.1:p.Val281Met
NM_001321336.2:c.-74+14425C>T (SPATA22)	NP_001308265.1:n.-74+14425C>T
NM_001321337.2:c.-74+14425C>T (SPATA22)	NP_001308266.1:n.-74+14425C>T