Canonical Allele Identifier: CA397682356
Gene: ASPA HGNC NCBI
SPATA22 HGNC NCBI

Linked Data

gnomAD v4: 17-3481737-G-T
COSMIC: COSM977968

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3481737G>T , CM000679.2:g.3481737G>T GRCh38
NC_000017.10:g.3385031G>T , CM000679.1:g.3385031G>T GRCh37
NC_000017.9:g.3331781G>T NCBI36
NG_008399.1:g.12628G>T
NG_008399.2:g.13092G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263080.3:c.371G>T (ASPA) MANE Select ENSP00000263080.2:p.Cys124Phe
ENST00000263080.2:c.371G>T (ASPA) ENSP00000263080.2:p.Cys124Phe
ENST00000456349.6:c.371G>T (ASPA) ENSP00000409976.2:p.Cys124Phe
ENST00000541913.5:c.-73-12339C>A (SPATA22) ENSP00000441920.1:n.-73-12339C>A
ENST00000570318.1:c.-73-12339C>A (SPATA22) ENSP00000459147.1:n.-73-12339C>A
ENST00000571278.1:c.*105G>T (ASPA) ENSP00000461358.1:n.*105G>T
NM_000049.2:c.371G>T (ASPA) NP_000040.1:p.Cys124Phe
NM_001128085.1:c.371G>T (ASPA) NP_001121557.1:p.Cys124Phe
XM_005256829.1:c.-73-12339C>A (SPATA22) XP_005256886.1:n.-73-12339C>A
XM_005256830.1:c.-73-12339C>A (SPATA22) XP_005256887.1:n.-73-12339C>A
XM_006721527.2:c.371G>T (ASPA) XP_006721590.1:p.Cys124Phe
XR_934026.1:n.546G>T (ASPA)
NM_001321336.1:c.-73-12339C>A (SPATA22) NP_001308265.1:n.-73-12339C>A
NM_001321337.1:c.-73-12339C>A (SPATA22) NP_001308266.1:n.-73-12339C>A
XM_017024661.1:c.371G>T (ASPA) XP_016880150.1:p.Cys124Phe
XM_024450764.1:c.371G>T (ASPA) XP_024306532.1:p.Cys124Phe
XR_934026.2:n.546G>T (ASPA)
NM_000049.3:c.371G>T (ASPA) NP_000040.1:p.Cys124Phe
NM_000049.4:c.371G>T (ASPA) MANE Select NP_000040.1:p.Cys124Phe
NM_001321336.2:c.-73-12339C>A (SPATA22) NP_001308265.1:n.-73-12339C>A
NM_001321337.2:c.-73-12339C>A (SPATA22) NP_001308266.1:n.-73-12339C>A