Canonical Allele Identifier: CA371817285

Gene: SPAG1

Linked Data

• MyVariant Identifiers: chr8:g.101251617A>C (hg19) ; chr8:g.100239389A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100239389A>C , CM000670.2:g.100239389A>C	GRCh38
NC_000008.10:g.101251617A>C , CM000670.1:g.101251617A>C	GRCh37
NC_000008.9:g.101320793A>C	NCBI36
NG_033834.1:g.86355A>C
NG_033834.2:g.86355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388798.7:c.2265A>C MANE Select	ENSP00000373450.3:p.Lys755Asn
ENST00000251809.4:c.2265A>C	ENSP00000251809.3:p.Lys755Asn
ENST00000388798.6:c.2265A>C	ENSP00000373450.2:p.Lys755Asn
ENST00000519424.1:n.517A>C
NM_003114.4:c.2265A>C	NP_003105.2:p.Lys755Asn
NM_172218.2:c.2265A>C	NP_757367.1:p.Lys755Asn
XM_011517240.1:c.2112A>C	XP_011515542.1:p.Lys704Asn
XM_011517241.1:c.2116-1014A>C	XP_011515543.1:n.2116-1014A>C
XM_011517242.1:c.2265A>C	XP_011515544.1:p.Lys755Asn
XM_011517243.1:c.2265A>C	XP_011515545.1:p.Lys755Asn
XR_928449.1:n.89-1955T>G
XM_011517240.2:c.2112A>C	XP_011515542.1:p.Lys704Asn
XM_011517241.2:c.2116-1014A>C	XP_011515543.1:n.2116-1014A>C
XM_011517242.2:c.2265A>C	XP_011515544.1:p.Lys755Asn
XM_011517243.2:c.2265A>C	XP_011515545.1:p.Lys755Asn
XM_017013754.1:c.2370A>C	XP_016869243.1:p.Lys790Asn
XM_017013755.1:c.1929A>C	XP_016869244.1:p.Lys643Asn
XR_001745580.1:n.2224A>C
XR_001745581.1:n.2057A>C
XR_001745582.1:n.2251A>C
XR_928449.3:n.87-1955T>G
NM_001374321.1:c.2265A>C	NP_001361250.1:p.Lys755Asn
NM_003114.5:c.2265A>C MANE Select	NP_003105.2:p.Lys755Asn
NM_172218.3:c.2265A>C	NP_757367.1:p.Lys755Asn