Canonical Allele Identifier: CA338880392

Gene: ALPL

Linked Data

• gnomAD v4: 1-21573773-C-G
• MyVariant Identifiers: chr1:g.21900266C>G (hg19) ; chr1:g.21573773C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573773C>G , CM000663.2:g.21573773C>G	GRCh38
NC_000001.10:g.21900266C>G , CM000663.1:g.21900266C>G	GRCh37
NC_000001.9:g.21772853C>G	NCBI36
NG_008940.1:g.69409C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.971C>G MANE Select	ENSP00000363973.3:p.Pro324Arg
ENST00000374830.2:c.73-1960C>G
ENST00000374832.5:c.971C>G	ENSP00000363965.1:p.Pro324Arg
ENST00000374840.7:c.971C>G	ENSP00000363973.3:p.Pro324Arg
ENST00000539907.5:c.740C>G	ENSP00000437674.1:p.Pro247Arg
ENST00000540617.5:c.806C>G	ENSP00000442672.1:p.Pro269Arg
NM_000478.4:c.971C>G	NP_000469.3:p.Pro324Arg
NM_001127501.2:c.806C>G	NP_001120973.2:p.Pro269Arg
NM_001177520.1:c.740C>G	NP_001170991.1:p.Pro247Arg
XM_005245818.1:c.971C>G	XP_005245875.1:p.Pro324Arg
XM_005245820.2:c.971C>G	XP_005245877.1:p.Pro324Arg
XM_006710546.1:c.971C>G	XP_006710609.1:p.Pro324Arg
NM_000478.5:c.971C>G	NP_000469.3:p.Pro324Arg
NM_001127501.3:c.806C>G	NP_001120973.2:p.Pro269Arg
NM_001177520.2:c.740C>G	NP_001170991.1:p.Pro247Arg
XM_006710546.3:c.971C>G	XP_006710609.1:p.Pro324Arg
XM_017000903.1:c.815C>G	XP_016856392.1:p.Pro272Arg
NM_000478.6:c.971C>G MANE Select	NP_000469.3:p.Pro324Arg
NM_001127501.4:c.806C>G	NP_001120973.2:p.Pro269Arg
NM_001177520.3:c.740C>G	NP_001170991.1:p.Pro247Arg
NM_001369803.2:c.971C>G	NP_001356732.1:p.Pro324Arg
NM_001369804.2:c.971C>G	NP_001356733.1:p.Pro324Arg
NM_001369805.2:c.971C>G	NP_001356734.1:p.Pro324Arg