Canonical Allele Identifier: CA385051885

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53328496G>A , CM000674.2:g.53328496G>A	GRCh38
NC_000012.11:g.53722280G>A , CM000674.1:g.53722280G>A	GRCh37
NC_000012.10:g.52008547G>A	NCBI36
NG_023391.1:g.12725C>T
NG_023391.2:g.21298C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001173467.3:c.946C>T MANE Select	NP_001166938.1:p.Arg316Cys
ENST00000536324.4:c.946C>T MANE Select	ENSP00000443827.2:p.Arg316Cys
NM_001173467.2:c.946C>T	NP_001166938.1:p.Arg316Cys
NM_001300837.1:c.892C>T	NP_001287766.1:p.Arg298Cys
NM_001300837.2:c.892C>T	NP_001287766.1:p.Arg298Cys
NM_152860.1:c.946C>T	NP_690599.1:p.Arg316Cys
NM_152860.2:c.946C>T	NP_690599.1:p.Arg316Cys
ENST00000303846.3:c.946C>T	ENSP00000302812.3:p.Arg316Cys
ENST00000536324.3:c.946C>T	ENSP00000443827.2:p.Arg316Cys
ENST00000537210.2:c.892C>T	ENSP00000441367.2:p.Arg298Cys
XM_011537900.1:c.892C>T	XP_011536202.1:p.Arg298Cys
XM_011537900.2:c.892C>T	XP_011536202.1:p.Arg298Cys
XM_011537901.1:c.892C>T	XP_011536203.1:p.Arg298Cys