Canonical Allele Identifier: CA4827199

Gene: SPAG1

Linked Data

• ClinVar Variation Id: 242014
• ClinVar RCV Id: RCV000231674 ; RCV003907898 ; RCV002418030
• dbSNP Id: rs149271265
• ExAC: 8:101178106 G / A
• gnomAD v2: 8-101178106-G-A
• gnomAD v3: 8-100165878-G-A
• gnomAD v4: 8-100165878-G-A
• MyVariant Identifiers: chr8:g.101178106G>A (hg19) ; chr8:g.100165878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100165878G>A , CM000670.2:g.100165878G>A	GRCh38
NC_000008.10:g.101178106G>A , CM000670.1:g.101178106G>A	GRCh37
NC_000008.9:g.101247282G>A	NCBI36
NG_033834.1:g.12844G>A
NG_033834.2:g.12844G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.205G>A MANE Select	ENSP00000373450.3:p.Ala69Thr
ENST00000251809.4:c.205G>A	ENSP00000251809.3:p.Ala69Thr
ENST00000388798.6:c.205G>A	ENSP00000373450.2:p.Ala69Thr
ENST00000520508.5:c.205G>A	ENSP00000428070.1:p.Ala69Thr
ENST00000520643.5:c.205G>A	ENSP00000427716.1:p.Ala69Thr
NM_003114.4:c.205G>A	NP_003105.2:p.Ala69Thr
NM_172218.2:c.205G>A	NP_757367.1:p.Ala69Thr
XM_011517240.1:c.205G>A	XP_011515542.1:p.Ala69Thr
XM_011517241.1:c.205G>A	XP_011515543.1:p.Ala69Thr
XM_011517242.1:c.205G>A	XP_011515544.1:p.Ala69Thr
XM_011517243.1:c.205G>A	XP_011515545.1:p.Ala69Thr
XM_011517244.1:c.205G>A	XP_011515546.1:p.Ala69Thr
XM_011517245.1:c.205G>A	XP_011515547.1:p.Ala69Thr
XM_011517240.2:c.205G>A	XP_011515542.1:p.Ala69Thr
XM_011517241.2:c.205G>A	XP_011515543.1:p.Ala69Thr
XM_011517242.2:c.205G>A	XP_011515544.1:p.Ala69Thr
XM_011517243.2:c.205G>A	XP_011515545.1:p.Ala69Thr
XM_011517245.2:c.205G>A	XP_011515547.1:p.Ala69Thr
XM_017013754.1:c.310G>A	XP_016869243.1:p.Ala104Thr
XM_017013755.1:c.-132G>A	XP_016869244.1:n.-132G>A
XR_001745580.1:n.291G>A
XR_001745581.1:n.291G>A
XR_001745582.1:n.291G>A
XR_001745583.1:n.291G>A
NM_001374321.1:c.205G>A	NP_001361250.1:p.Ala69Thr
NM_003114.5:c.205G>A MANE Select	NP_003105.2:p.Ala69Thr
NM_172218.3:c.205G>A	NP_757367.1:p.Ala69Thr