Canonical Allele Identifier: CA4827257

Gene: SPAG1

Linked Data

• ClinVar Variation Id: 474662
• ClinVar RCV Id: RCV000551240
• dbSNP Id: rs778136474
• ExAC: 8:101195600 T / C
• gnomAD v2: 8-101195600-T-C
• gnomAD v3: 8-100183372-T-C
• gnomAD v4: 8-100183372-T-C
• MyVariant Identifiers: chr8:g.101195600T>C (hg19) ; chr8:g.100183372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100183372T>C , CM000670.2:g.100183372T>C	GRCh38
NC_000008.10:g.101195600T>C , CM000670.1:g.101195600T>C	GRCh37
NC_000008.9:g.101264776T>C	NCBI36
NG_033834.1:g.30338T>C
NG_033834.2:g.30338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.427-3T>C MANE Select	ENSP00000373450.3:n.427-3T>C
ENST00000251809.4:c.427-3T>C	ENSP00000251809.3:n.427-3T>C
ENST00000388798.6:c.427-3T>C	ENSP00000373450.2:n.427-3T>C
ENST00000520508.5:c.427-3T>C	ENSP00000428070.1:n.427-3T>C
ENST00000520643.5:c.427-3T>C	ENSP00000427716.1:n.427-3T>C
NM_003114.4:c.427-3T>C	NP_003105.2:n.427-3T>C
NM_172218.2:c.427-3T>C	NP_757367.1:n.427-3T>C
XM_011517240.1:c.427-3T>C	XP_011515542.1:n.427-3T>C
XM_011517241.1:c.427-3T>C	XP_011515543.1:n.427-3T>C
XM_011517242.1:c.427-3T>C	XP_011515544.1:n.427-3T>C
XM_011517243.1:c.427-3T>C	XP_011515545.1:n.427-3T>C
XM_011517244.1:c.427-3T>C	XP_011515546.1:n.427-3T>C
XM_011517245.1:c.427-3T>C	XP_011515547.1:n.427-3T>C
XM_011517240.2:c.427-3T>C	XP_011515542.1:n.427-3T>C
XM_011517241.2:c.427-3T>C	XP_011515543.1:n.427-3T>C
XM_011517242.2:c.427-3T>C	XP_011515544.1:n.427-3T>C
XM_011517243.2:c.427-3T>C	XP_011515545.1:n.427-3T>C
XM_011517245.2:c.427-3T>C	XP_011515547.1:n.427-3T>C
XM_017013754.1:c.532-3T>C	XP_016869243.1:n.532-3T>C
XM_017013755.1:c.91-3T>C	XP_016869244.1:n.91-3T>C
XR_001745580.1:n.513-3T>C
XR_001745581.1:n.513-3T>C
XR_001745582.1:n.513-3T>C
XR_001745583.1:n.513-3T>C
NM_001374321.1:c.427-3T>C	NP_001361250.1:n.427-3T>C
NM_003114.5:c.427-3T>C MANE Select	NP_003105.2:n.427-3T>C
NM_172218.3:c.427-3T>C	NP_757367.1:n.427-3T>C