Canonical Allele Identifier: CA1117147244

Gene: SPAG1

Linked Data

• dbSNP Id: rs1816823135
• gnomAD v3: 8-100191683-A-AT
• gnomAD v4: 8-100191683-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100191691dup , CM000670.2:g.100191691dup	GRCh38
NC_000008.10:g.101203919dup , CM000670.1:g.101203919dup	GRCh37
NC_000008.9:g.101273095dup	NCBI36
NG_033834.1:g.38657dup
NG_033834.2:g.38657dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.939+195dup MANE Select	ENSP00000373450.3:n.939+195dup
ENST00000251809.4:c.939+195dup	ENSP00000251809.3:n.939+195dup
ENST00000388798.6:c.939+195dup	ENSP00000373450.2:n.939+195dup
ENST00000520508.5:c.939+195dup	ENSP00000428070.1:n.939+195dup
ENST00000520643.5:c.939+195dup	ENSP00000427716.1:n.939+195dup
NM_003114.4:c.939+195dup	NP_003105.2:n.939+195dup
NM_172218.2:c.939+195dup	NP_757367.1:n.939+195dup
XM_011517240.1:c.939+195dup	XP_011515542.1:n.939+195dup
XM_011517241.1:c.939+195dup	XP_011515543.1:n.939+195dup
XM_011517242.1:c.939+195dup	XP_011515544.1:n.939+195dup
XM_011517243.1:c.939+195dup	XP_011515545.1:n.939+195dup
XM_011517244.1:c.939+195dup	XP_011515546.1:n.939+195dup
XM_011517245.1:c.939+195dup	XP_011515547.1:n.939+195dup
XM_011517240.2:c.939+195dup	XP_011515542.1:n.939+195dup
XM_011517241.2:c.939+195dup	XP_011515543.1:n.939+195dup
XM_011517242.2:c.939+195dup	XP_011515544.1:n.939+195dup
XM_011517243.2:c.939+195dup	XP_011515545.1:n.939+195dup
XM_011517245.2:c.939+195dup	XP_011515547.1:n.939+195dup
XM_017013754.1:c.1044+195dup	XP_016869243.1:n.1044+195dup
XM_017013755.1:c.603+195dup	XP_016869244.1:n.603+195dup
XR_001745580.1:n.1025+195dup
XR_001745581.1:n.1025+195dup
XR_001745582.1:n.1025+195dup
XR_001745583.1:n.1025+195dup
NM_001374321.1:c.939+195dup	NP_001361250.1:n.939+195dup
NM_003114.5:c.939+195dup MANE Select	NP_003105.2:n.939+195dup
NM_172218.3:c.939+195dup	NP_757367.1:n.939+195dup