Canonical Allele Identifier: CA10638089

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53335707T>G , CM000674.2:g.53335707T>G	GRCh38
NC_000012.11:g.53729491T>G , CM000674.1:g.53729491T>G	GRCh37
NC_000012.10:g.52015758T>G	NCBI36
NG_023391.1:g.5514A>C
NG_023391.2:g.14087A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001173467.3:c.-47-14A>C MANE Select	NP_001166938.1:n.-47-14A>C
ENST00000536324.4:c.-47-14A>C MANE Select	ENSP00000443827.2:n.-47-14A>C
NM_001173467.2:c.-47-14A>C	NP_001166938.1:n.-47-14A>C
NM_001300837.1:c.-34+439A>C	NP_001287766.1:n.-34+439A>C
NM_001300837.2:c.-34+439A>C	NP_001287766.1:n.-34+439A>C
NM_152860.1:c.-61A>C	NP_690599.1:n.-61A>C
NM_152860.2:c.-61A>C	NP_690599.1:n.-61A>C
ENST00000303846.3:c.-61A>C	ENSP00000302812.3:n.-61A>C
ENST00000536324.3:c.-47-14A>C	ENSP00000443827.2:n.-47-14A>C
ENST00000537210.2:c.-34+439A>C	ENSP00000441367.2:n.-34+439A>C
ENST00000547755.1:c.-33-6287A>C	ENSP00000449355.1:n.-33-6287A>C
XM_011537900.1:c.-34+439A>C	XP_011536202.1:n.-34+439A>C
XM_011537900.2:c.-34+439A>C	XP_011536202.1:n.-34+439A>C
XM_011537901.1:c.-33-6287A>C	XP_011536203.1:n.-33-6287A>C