Canonical Allele Identifier: CA397688114

Gene: ASPA SPATA22

Linked Data

• dbSNP Id: rs1256188187
• gnomAD v2: 17-3402341-C-A
• gnomAD v4: 17-3499047-C-A
• MyVariant Identifiers: chr17:g.3402341C>A (hg19) ; chr17:g.3499047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3499047C>A , CM000679.2:g.3499047C>A	GRCh38
NC_000017.10:g.3402341C>A , CM000679.1:g.3402341C>A	GRCh37
NC_000017.9:g.3349091C>A	NCBI36
NG_008399.1:g.29938C>A
NG_008399.2:g.30402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263080.3:c.901C>A (ASPA) MANE Select	ENSP00000263080.2:p.Leu301Ile
ENST00000263080.2:c.901C>A (ASPA)	ENSP00000263080.2:p.Leu301Ile
ENST00000456349.6:c.901C>A (ASPA)	ENSP00000409976.2:p.Leu301Ile
ENST00000541913.5:c.-74+14365G>T (SPATA22)	ENSP00000441920.1:n.-74+14365G>T
ENST00000570318.1:c.-74+14564G>T (SPATA22)	ENSP00000459147.1:n.-74+14564G>T
NM_000049.2:c.901C>A (ASPA)	NP_000040.1:p.Leu301Ile
NM_001128085.1:c.901C>A (ASPA)	NP_001121557.1:p.Leu301Ile
XM_005256829.1:c.-74+14365G>T (SPATA22)	XP_005256886.1:n.-74+14365G>T
XM_005256830.1:c.-74+14365G>T (SPATA22)	XP_005256887.1:n.-74+14365G>T
XM_006721527.2:c.901C>A (ASPA)	XP_006721590.1:p.Leu301Ile
NM_001321336.1:c.-74+14365G>T (SPATA22)	NP_001308265.1:n.-74+14365G>T
NM_001321337.1:c.-74+14365G>T (SPATA22)	NP_001308266.1:n.-74+14365G>T
XM_017024661.1:c.901C>A (ASPA)	XP_016880150.1:p.Leu301Ile
XM_024450764.1:c.901C>A (ASPA)	XP_024306532.1:p.Leu301Ile
XR_934026.2:n.1168C>A (ASPA)
NM_000049.3:c.901C>A (ASPA)	NP_000040.1:p.Leu301Ile
NM_000049.4:c.901C>A (ASPA) MANE Select	NP_000040.1:p.Leu301Ile
NM_001321336.2:c.-74+14365G>T (SPATA22)	NP_001308265.1:n.-74+14365G>T
NM_001321337.2:c.-74+14365G>T (SPATA22)	NP_001308266.1:n.-74+14365G>T