Canonical Allele Identifier: CA6599492

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53328449G>A , CM000674.2:g.53328449G>A	GRCh38
NC_000012.11:g.53722233G>A , CM000674.1:g.53722233G>A	GRCh37
NC_000012.10:g.52008500G>A	NCBI36
NG_023391.1:g.12772C>T
NG_023391.2:g.21345C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001173467.3:c.993C>T MANE Select	NP_001166938.1:p.Cys331=
ENST00000536324.4:c.993C>T MANE Select	ENSP00000443827.2:p.Cys331=
NM_001173467.2:c.993C>T	NP_001166938.1:p.Cys331=
NM_001300837.1:c.939C>T	NP_001287766.1:p.Cys313=
NM_001300837.2:c.939C>T	NP_001287766.1:p.Cys313=
NM_152860.1:c.993C>T	NP_690599.1:p.Cys331=
NM_152860.2:c.993C>T	NP_690599.1:p.Cys331=
ENST00000303846.3:c.993C>T	ENSP00000302812.3:p.Cys331=
ENST00000536324.3:c.993C>T	ENSP00000443827.2:p.Cys331=
ENST00000537210.2:c.939C>T	ENSP00000441367.2:p.Cys313=
XM_011537900.1:c.939C>T	XP_011536202.1:p.Cys313=
XM_011537900.2:c.939C>T	XP_011536202.1:p.Cys313=
XM_011537901.1:c.939C>T	XP_011536203.1:p.Cys313=