Canonical Allele Identifier: CA16040720

Gene: ALPL

Linked Data

• ClinVar Variation Id: 371591
• ClinVar RCV Id: RCV000410728 ; RCV001214322
• dbSNP Id: rs1057517391
• MyVariant Identifiers: chr1:g.21900294T>G (hg19) ; chr1:g.21573801T>G (hg38)
• PubMed: PMID:15694177 ; PMID:18925618

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573801T>G , CM000663.2:g.21573801T>G	GRCh38
NC_000001.10:g.21900294T>G , CM000663.1:g.21900294T>G	GRCh37
NC_000001.9:g.21772881T>G	NCBI36
NG_008940.1:g.69437T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.997+2T>G MANE Select	ENSP00000363973.3:n.997+2T>G
ENST00000374830.2:c.73-1932T>G
ENST00000374832.5:c.997+2T>G	ENSP00000363965.1:n.997+2T>G
ENST00000374840.7:c.997+2T>G	ENSP00000363973.3:n.997+2T>G
ENST00000539907.5:c.766+2T>G	ENSP00000437674.1:n.766+2T>G
ENST00000540617.5:c.832+2T>G	ENSP00000442672.1:n.832+2T>G
NM_000478.4:c.997+2T>G	NP_000469.3:n.997+2T>G
NM_001127501.2:c.832+2T>G	NP_001120973.2:n.832+2T>G
NM_001177520.1:c.766+2T>G	NP_001170991.1:n.766+2T>G
XM_005245818.1:c.997+2T>G	XP_005245875.1:n.997+2T>G
XM_005245820.2:c.997+2T>G	XP_005245877.1:n.997+2T>G
XM_006710546.1:c.997+2T>G	XP_006710609.1:n.997+2T>G
NM_000478.5:c.997+2T>G	NP_000469.3:n.997+2T>G
NM_001127501.3:c.832+2T>G	NP_001120973.2:n.832+2T>G
NM_001177520.2:c.766+2T>G	NP_001170991.1:n.766+2T>G
XM_006710546.3:c.997+2T>G	XP_006710609.1:n.997+2T>G
XM_017000903.1:c.841+2T>G	XP_016856392.1:n.841+2T>G
NM_000478.6:c.997+2T>G MANE Select	NP_000469.3:n.997+2T>G
NM_001127501.4:c.832+2T>G	NP_001120973.2:n.832+2T>G
NM_001177520.3:c.766+2T>G	NP_001170991.1:n.766+2T>G
NM_001369803.2:c.997+2T>G	NP_001356732.1:n.997+2T>G
NM_001369804.2:c.997+2T>G	NP_001356733.1:n.997+2T>G
NM_001369805.2:c.997+2T>G	NP_001356734.1:n.997+2T>G