Canonical Allele Identifier: CA131987997

Gene: SPDL1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.169601573G>A , CM000667.2:g.169601573G>A	GRCh38
NC_000005.9:g.169028577G>A , CM000667.1:g.169028577G>A	GRCh37
NC_000005.8:g.168961155G>A	NCBI36
NG_051238.1:g.22940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017785.5:c.1618G>A MANE Select	NP_060255.3:p.Ala540Thr
ENST00000265295.9:c.1618G>A MANE Select	ENSP00000265295.4:p.Ala540Thr
NM_001329639.1:c.1618G>A	NP_001316568.1:p.Ala540Thr
NM_001329639.2:c.1618G>A	NP_001316568.1:p.Ala540Thr
NM_001329640.1:c.1618G>A	NP_001316569.1:p.Ala540Thr
NM_001329640.2:c.1618G>A	NP_001316569.1:p.Ala540Thr
NM_001329641.1:c.1618G>A	NP_001316570.1:p.Ala540Thr
NM_001329641.2:c.1618G>A	NP_001316570.1:p.Ala540Thr
NM_001329642.1:c.1405G>A	NP_001316571.1:p.Ala469Thr
NM_001329642.2:c.1405G>A	NP_001316571.1:p.Ala469Thr
NM_001329643.1:c.1405G>A	NP_001316572.1:p.Ala469Thr
NM_001329643.2:c.1405G>A	NP_001316572.1:p.Ala469Thr
NM_017785.4:c.1618G>A	NP_060255.3:p.Ala540Thr
ENST00000265295.8:c.1618G>A	ENSP00000265295.4:p.Ala540Thr
ENST00000507232.5:c.*1398G>A	ENSP00000425357.1:n.*1398G>A
XM_011534585.1:c.1618G>A	XP_011532887.1:p.Ala540Thr
XM_011534586.1:c.1618G>A	XP_011532888.1:p.Ala540Thr
XM_011534587.1:c.1618G>A	XP_011532889.1:p.Ala540Thr
XM_011534587.2:c.1618G>A	XP_011532889.1:p.Ala540Thr
XM_011534588.1:c.1618G>A	XP_011532890.1:p.Ala540Thr
XM_011534588.2:c.1618G>A	XP_011532890.1:p.Ala540Thr
XM_011534589.1:c.1618G>A	XP_011532891.1:p.Ala540Thr
XM_011534589.2:c.1618G>A	XP_011532891.1:p.Ala540Thr
XM_011534590.1:c.1405G>A	XP_011532892.1:p.Ala469Thr