Canonical Allele Identifier: CA10718678
Community Standard Title: NM_000478.6(ALPL):c.792+255G>C
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21568502G>C , CM000663.2:g.21568502G>C GRCh38
NC_000001.10:g.21894995G>C , CM000663.1:g.21894995G>C GRCh37
NC_000001.9:g.21767582G>C NCBI36
NG_008940.1:g.64138G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000478.6:c.792+255G>C MANE Select NP_000469.3:n.792+255G>C
ENST00000374840.8:c.792+255G>C MANE Select ENSP00000363973.3:n.792+255G>C
NM_000478.4:c.792+255G>C NP_000469.3:n.792+255G>C
NM_000478.5:c.792+255G>C NP_000469.3:n.792+255G>C
NM_001127501.2:c.627+255G>C NP_001120973.2:n.627+255G>C
NM_001127501.3:c.627+255G>C NP_001120973.2:n.627+255G>C
NM_001127501.4:c.627+255G>C NP_001120973.2:n.627+255G>C
NM_001177520.1:c.561+255G>C NP_001170991.1:n.561+255G>C
NM_001177520.2:c.561+255G>C NP_001170991.1:n.561+255G>C
NM_001177520.3:c.561+255G>C NP_001170991.1:n.561+255G>C
NM_001369803.2:c.792+255G>C NP_001356732.1:n.792+255G>C
NM_001369804.2:c.792+255G>C NP_001356733.1:n.792+255G>C
NM_001369805.2:c.792+255G>C NP_001356734.1:n.792+255G>C
ENST00000374832.5:c.792+255G>C ENSP00000363965.1:n.792+255G>C
ENST00000374840.7:c.792+255G>C ENSP00000363973.3:n.792+255G>C
ENST00000539907.5:c.561+255G>C ENSP00000437674.1:n.561+255G>C
ENST00000540617.5:c.627+255G>C ENSP00000442672.1:n.627+255G>C
XM_005245818.1:c.792+255G>C XP_005245875.1:n.792+255G>C
XM_005245820.2:c.792+255G>C XP_005245877.1:n.792+255G>C
XM_006710546.1:c.792+255G>C XP_006710609.1:n.792+255G>C
XM_006710546.3:c.792+255G>C XP_006710609.1:n.792+255G>C
XM_017000903.1:c.636+255G>C XP_016856392.1:n.636+255G>C