Canonical Allele Identifier: CA256924

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13667
• ClinVar RCV Id: RCV000014655 ; RCV001273156 ; RCV001042961 ; RCV001333468 ; RCV003473099
• dbSNP Id: rs121918005
• ExAC: 1:21887155 C / T
• gnomAD v2: 1-21887155-C-T
• gnomAD v3: 1-21560662-C-T
• gnomAD v4: 1-21560662-C-T
• MyVariant Identifiers: chr1:g.21887155C>T (hg19) ; chr1:g.21560662C>T (hg38)
• PubMed: PMID:1409720

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560662C>T , CM000663.2:g.21560662C>T	GRCh38
NC_000001.10:g.21887155C>T , CM000663.1:g.21887155C>T	GRCh37
NC_000001.9:g.21759742C>T	NCBI36
NG_008940.1:g.56298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.98C>T MANE Select	ENSP00000363973.3:p.Ala33Val
ENST00000374832.5:c.98C>T	ENSP00000363965.1:p.Ala33Val
ENST00000374840.7:c.98C>T	ENSP00000363973.3:p.Ala33Val
ENST00000468526.1:n.158C>T
ENST00000539907.5:c.-18C>T	ENSP00000437674.1:n.-18C>T
ENST00000540617.5:c.-68C>T	ENSP00000442672.1:n.-68C>T
NM_000478.4:c.98C>T	NP_000469.3:p.Ala33Val
NM_001127501.2:c.-68C>T	NP_001120973.2:n.-68C>T
NM_001177520.1:c.-18C>T	NP_001170991.1:n.-18C>T
XM_005245818.1:c.98C>T	XP_005245875.1:p.Ala33Val
XM_005245820.2:c.98C>T	XP_005245877.1:p.Ala33Val
XM_006710546.1:c.98C>T	XP_006710609.1:p.Ala33Val
NM_000478.5:c.98C>T	NP_000469.3:p.Ala33Val
NM_001127501.3:c.-68C>T	NP_001120973.2:n.-68C>T
NM_001177520.2:c.-18C>T	NP_001170991.1:n.-18C>T
XM_006710546.3:c.98C>T	XP_006710609.1:p.Ala33Val
NM_000478.6:c.98C>T MANE Select	NP_000469.3:p.Ala33Val
NM_001127501.4:c.-68C>T	NP_001120973.2:n.-68C>T
NM_001177520.3:c.-18C>T	NP_001170991.1:n.-18C>T
NM_001369803.2:c.98C>T	NP_001356732.1:p.Ala33Val
NM_001369804.2:c.98C>T	NP_001356733.1:p.Ala33Val
NM_001369805.2:c.98C>T	NP_001356734.1:p.Ala33Val