Canonical Allele Identifier: CA377231138

Gene: SYNPO2L

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.73648847T>C , CM000672.2:g.73648847T>C	GRCh38
NC_000010.10:g.75408605T>C , CM000672.1:g.75408605T>C	GRCh37
NC_000010.9:g.75078611T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394810.3:c.805A>G MANE Select	ENSP00000378289.2:p.Ser269Gly
ENST00000372873.8:c.133A>G	ENSP00000361964.4:p.Ser45Gly
ENST00000394810.2:c.805A>G	ENSP00000378289.2:p.Ser269Gly
NM_001114133.2:c.805A>G	NP_001107605.1:p.Ser269Gly
NM_024875.4:c.133A>G	NP_079151.2:p.Ser45Gly
XM_005270158.1:c.-84A>G	XP_005270215.1:n.-84A>G
XM_005270159.2:c.-84A>G	XP_005270216.1:n.-84A>G
XM_005270160.2:c.-84A>G	XP_005270217.1:n.-84A>G
XM_005270158.2:c.-84A>G	XP_005270215.1:n.-84A>G
XM_005270159.3:c.-84A>G	XP_005270216.1:n.-84A>G
NM_001114133.3:c.805A>G MANE Select	NP_001107605.1:p.Ser269Gly
NM_024875.5:c.133A>G	NP_079151.2:p.Ser45Gly