Canonical Allele Identifier: CA338880380

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1471027
• ClinVar RCV Id: RCV001966584 ; RCV003448441
• dbSNP Id: rs2148184736
• MyVariant Identifiers: chr1:g.21900262A>G (hg19) ; chr1:g.21573769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573769A>G , CM000663.2:g.21573769A>G	GRCh38
NC_000001.10:g.21900262A>G , CM000663.1:g.21900262A>G	GRCh37
NC_000001.9:g.21772849A>G	NCBI36
NG_008940.1:g.69405A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.967A>G MANE Select	ENSP00000363973.3:p.Asn323Asp
ENST00000374830.2:c.73-1964A>G
ENST00000374832.5:c.967A>G	ENSP00000363965.1:p.Asn323Asp
ENST00000374840.7:c.967A>G	ENSP00000363973.3:p.Asn323Asp
ENST00000539907.5:c.736A>G	ENSP00000437674.1:p.Asn246Asp
ENST00000540617.5:c.802A>G	ENSP00000442672.1:p.Asn268Asp
NM_000478.4:c.967A>G	NP_000469.3:p.Asn323Asp
NM_001127501.2:c.802A>G	NP_001120973.2:p.Asn268Asp
NM_001177520.1:c.736A>G	NP_001170991.1:p.Asn246Asp
XM_005245818.1:c.967A>G	XP_005245875.1:p.Asn323Asp
XM_005245820.2:c.967A>G	XP_005245877.1:p.Asn323Asp
XM_006710546.1:c.967A>G	XP_006710609.1:p.Asn323Asp
NM_000478.5:c.967A>G	NP_000469.3:p.Asn323Asp
NM_001127501.3:c.802A>G	NP_001120973.2:p.Asn268Asp
NM_001177520.2:c.736A>G	NP_001170991.1:p.Asn246Asp
XM_006710546.3:c.967A>G	XP_006710609.1:p.Asn323Asp
XM_017000903.1:c.811A>G	XP_016856392.1:p.Asn271Asp
NM_000478.6:c.967A>G MANE Select	NP_000469.3:p.Asn323Asp
NM_001127501.4:c.802A>G	NP_001120973.2:p.Asn268Asp
NM_001177520.3:c.736A>G	NP_001170991.1:p.Asn246Asp
NM_001369803.2:c.967A>G	NP_001356732.1:p.Asn323Asp
NM_001369804.2:c.967A>G	NP_001356733.1:p.Asn323Asp
NM_001369805.2:c.967A>G	NP_001356734.1:p.Asn323Asp