Canonical Allele Identifier: CA4827241

Gene: SPAG1

Linked Data

• ClinVar Variation Id: 541535
• ClinVar RCV Id: RCV000651835 ; RCV002331259 ; RCV003892485
• dbSNP Id: rs141605537
• ExAC: 8:101190156 T / C
• gnomAD v2: 8-101190156-T-C
• gnomAD v3: 8-100177928-T-C
• gnomAD v4: 8-100177928-T-C
• MyVariant Identifiers: chr8:g.101190156T>C (hg19) ; chr8:g.100177928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100177928T>C , CM000670.2:g.100177928T>C	GRCh38
NC_000008.10:g.101190156T>C , CM000670.1:g.101190156T>C	GRCh37
NC_000008.9:g.101259332T>C	NCBI36
NG_033834.1:g.24894T>C
NG_033834.2:g.24894T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.413T>C MANE Select	ENSP00000373450.3:p.Leu138Pro
ENST00000251809.4:c.413T>C	ENSP00000251809.3:p.Leu138Pro
ENST00000388798.6:c.413T>C	ENSP00000373450.2:p.Leu138Pro
ENST00000520508.5:c.413T>C	ENSP00000428070.1:p.Leu138Pro
ENST00000520643.5:c.413T>C	ENSP00000427716.1:p.Leu138Pro
NM_003114.4:c.413T>C	NP_003105.2:p.Leu138Pro
NM_172218.2:c.413T>C	NP_757367.1:p.Leu138Pro
XM_011517240.1:c.413T>C	XP_011515542.1:p.Leu138Pro
XM_011517241.1:c.413T>C	XP_011515543.1:p.Leu138Pro
XM_011517242.1:c.413T>C	XP_011515544.1:p.Leu138Pro
XM_011517243.1:c.413T>C	XP_011515545.1:p.Leu138Pro
XM_011517244.1:c.413T>C	XP_011515546.1:p.Leu138Pro
XM_011517245.1:c.413T>C	XP_011515547.1:p.Leu138Pro
XM_011517240.2:c.413T>C	XP_011515542.1:p.Leu138Pro
XM_011517241.2:c.413T>C	XP_011515543.1:p.Leu138Pro
XM_011517242.2:c.413T>C	XP_011515544.1:p.Leu138Pro
XM_011517243.2:c.413T>C	XP_011515545.1:p.Leu138Pro
XM_011517245.2:c.413T>C	XP_011515547.1:p.Leu138Pro
XM_017013754.1:c.518T>C	XP_016869243.1:p.Leu173Pro
XM_017013755.1:c.77T>C	XP_016869244.1:p.Leu26Pro
XR_001745580.1:n.499T>C
XR_001745581.1:n.499T>C
XR_001745582.1:n.499T>C
XR_001745583.1:n.499T>C
NM_001374321.1:c.413T>C	NP_001361250.1:p.Leu138Pro
NM_003114.5:c.413T>C MANE Select	NP_003105.2:p.Leu138Pro
NM_172218.3:c.413T>C	NP_757367.1:p.Leu138Pro