Canonical Allele Identifier: CA237346539
Community Standard Title: NM_001173467.3(SP7):c.455G>C (p.Gly152Ala)
Gene: SP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53328987C>G , CM000674.2:g.53328987C>G GRCh38
NC_000012.11:g.53722771C>G , CM000674.1:g.53722771C>G GRCh37
NC_000012.10:g.52009038C>G NCBI36
NG_023391.1:g.12234G>C
NG_023391.2:g.20807G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001173467.3:c.455G>C MANE Select NP_001166938.1:p.Gly152Ala
ENST00000536324.4:c.455G>C MANE Select ENSP00000443827.2:p.Gly152Ala
NM_001173467.2:c.455G>C NP_001166938.1:p.Gly152Ala
NM_001300837.1:c.401G>C NP_001287766.1:p.Gly134Ala
NM_001300837.2:c.401G>C NP_001287766.1:p.Gly134Ala
NM_152860.1:c.455G>C NP_690599.1:p.Gly152Ala
NM_152860.2:c.455G>C NP_690599.1:p.Gly152Ala
ENST00000303846.3:c.455G>C ENSP00000302812.3:p.Gly152Ala
ENST00000536324.3:c.455G>C ENSP00000443827.2:p.Gly152Ala
ENST00000537210.2:c.401G>C ENSP00000441367.2:p.Gly134Ala
ENST00000547755.1:c.401G>C ENSP00000449355.1:p.Gly134Ala
XM_011537900.1:c.401G>C XP_011536202.1:p.Gly134Ala
XM_011537900.2:c.401G>C XP_011536202.1:p.Gly134Ala
XM_011537901.1:c.401G>C XP_011536203.1:p.Gly134Ala