Canonical Allele Identifier: CA199266

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13679
• ClinVar RCV Id: RCV000169778 ; RCV000710510 ; RCV001194283 ; RCV001253058 ; RCV000014672
• dbSNP Id: rs121918014
• ExAC: 1:21903075 A / G
• gnomAD v2: 1-21903075-A-G
• gnomAD v3: 1-21576582-A-G
• gnomAD v4: 1-21576582-A-G
• MyVariant Identifiers: chr1:g.21903075A>G (hg19) ; chr1:g.21576582A>G (hg38)
• PubMed: PMID:11395499 ; PMID:11745997 ; PMID:19500388 ; PMID:23688511

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576582A>G , CM000663.2:g.21576582A>G	GRCh38
NC_000001.10:g.21903075A>G , CM000663.1:g.21903075A>G	GRCh37
NC_000001.9:g.21775662A>G	NCBI36
NG_008940.1:g.72218A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1250A>G MANE Select	ENSP00000363973.3:p.Asn417Ser
ENST00000374829.2:n.519A>G
ENST00000374830.2:c.325A>G
ENST00000374832.5:c.1250A>G	ENSP00000363965.1:p.Asn417Ser
ENST00000374840.7:c.1250A>G	ENSP00000363973.3:p.Asn417Ser
ENST00000539907.5:c.1019A>G	ENSP00000437674.1:p.Asn340Ser
ENST00000540617.5:c.1085A>G	ENSP00000442672.1:p.Asn362Ser
NM_000478.4:c.1250A>G	NP_000469.3:p.Asn417Ser
NM_001127501.2:c.1085A>G	NP_001120973.2:p.Asn362Ser
NM_001177520.1:c.1019A>G	NP_001170991.1:p.Asn340Ser
XM_005245818.1:c.1250A>G	XP_005245875.1:p.Asn417Ser
XM_006710546.1:c.1250A>G	XP_006710609.1:p.Asn417Ser
NM_000478.5:c.1250A>G	NP_000469.3:p.Asn417Ser
NM_001127501.3:c.1085A>G	NP_001120973.2:p.Asn362Ser
NM_001177520.2:c.1019A>G	NP_001170991.1:p.Asn340Ser
XM_006710546.3:c.1250A>G	XP_006710609.1:p.Asn417Ser
XM_017000903.1:c.1094A>G	XP_016856392.1:p.Asn365Ser
NM_000478.6:c.1250A>G MANE Select	NP_000469.3:p.Asn417Ser
NM_001127501.4:c.1085A>G	NP_001120973.2:p.Asn362Ser
NM_001177520.3:c.1019A>G	NP_001170991.1:p.Asn340Ser
NM_001369803.2:c.1250A>G	NP_001356732.1:p.Asn417Ser
NM_001369804.2:c.1250A>G	NP_001356733.1:p.Asn417Ser
NM_001369805.2:c.1250A>G	NP_001356734.1:p.Asn417Ser