Canonical Allele Identifier: CA13647487

Gene: SP7

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53334171G>A , CM000674.2:g.53334171G>A	GRCh38
NC_000012.11:g.53727955G>A , CM000674.1:g.53727955G>A	GRCh37
NC_000012.10:g.52014222G>A	NCBI36
NG_023391.1:g.7050C>T
NG_023391.2:g.15623C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001173467.3:c.21+1455C>T MANE Select	NP_001166938.1:n.21+1455C>T
ENST00000536324.4:c.21+1455C>T MANE Select	ENSP00000443827.2:n.21+1455C>T
NM_001173467.2:c.21+1455C>T	NP_001166938.1:n.21+1455C>T
NM_001300837.1:c.-34+1975C>T	NP_001287766.1:n.-34+1975C>T
NM_001300837.2:c.-34+1975C>T	NP_001287766.1:n.-34+1975C>T
NM_152860.1:c.21+1455C>T	NP_690599.1:n.21+1455C>T
NM_152860.2:c.21+1455C>T	NP_690599.1:n.21+1455C>T
ENST00000303846.3:c.21+1455C>T	ENSP00000302812.3:n.21+1455C>T
ENST00000536324.3:c.21+1455C>T	ENSP00000443827.2:n.21+1455C>T
ENST00000537210.2:c.-34+1975C>T	ENSP00000441367.2:n.-34+1975C>T
ENST00000547755.1:c.-33-4751C>T	ENSP00000449355.1:n.-33-4751C>T
XM_011537900.1:c.-34+1975C>T	XP_011536202.1:n.-34+1975C>T
XM_011537900.2:c.-34+1975C>T	XP_011536202.1:n.-34+1975C>T
XM_011537901.1:c.-33-4751C>T	XP_011536203.1:n.-33-4751C>T