Canonical Allele Identifier: CA658658157

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53335679G>C , CM000674.2:g.53335679G>C	GRCh38
NC_000012.11:g.53729463G>C , CM000674.1:g.53729463G>C	GRCh37
NC_000012.10:g.52015730G>C	NCBI36
NG_023391.1:g.5542C>G
NG_023391.2:g.14115C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001173467.3:c.-33C>G MANE Select	NP_001166938.1:n.-33C>G
ENST00000536324.4:c.-33C>G MANE Select	ENSP00000443827.2:n.-33C>G
NM_001173467.2:c.-33C>G	NP_001166938.1:n.-33C>G
NM_001300837.1:c.-34+467C>G	NP_001287766.1:n.-34+467C>G
NM_001300837.2:c.-34+467C>G	NP_001287766.1:n.-34+467C>G
NM_152860.1:c.-33C>G	NP_690599.1:n.-33C>G
NM_152860.2:c.-33C>G	NP_690599.1:n.-33C>G
ENST00000303846.3:c.-33C>G	ENSP00000302812.3:n.-33C>G
ENST00000536324.3:c.-33C>G	ENSP00000443827.2:n.-33C>G
ENST00000537210.2:c.-34+467C>G	ENSP00000441367.2:n.-34+467C>G
ENST00000547755.1:c.-33-6259C>G	ENSP00000449355.1:n.-33-6259C>G
XM_011537900.1:c.-34+467C>G	XP_011536202.1:n.-34+467C>G
XM_011537900.2:c.-34+467C>G	XP_011536202.1:n.-34+467C>G
XM_011537901.1:c.-33-6259C>G	XP_011536203.1:n.-33-6259C>G