Canonical Allele Identifier: CA2036938717
Gene: SP7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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