Canonical Allele Identifier: CA338877904

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1076060
• ClinVar RCV Id: RCV001389815
• dbSNP Id: rs1644478533
• gnomAD v4: 1-21561118-C-T
• MyVariant Identifiers: chr1:g.21887611C>T (hg19) ; chr1:g.21561118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561118C>T , CM000663.2:g.21561118C>T	GRCh38
NC_000001.10:g.21887611C>T , CM000663.1:g.21887611C>T	GRCh37
NC_000001.9:g.21760198C>T	NCBI36
NG_008940.1:g.56754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.203C>T MANE Select	ENSP00000363973.3:p.Thr68Met
ENST00000374832.5:c.203C>T	ENSP00000363965.1:p.Thr68Met
ENST00000374840.7:c.203C>T	ENSP00000363973.3:p.Thr68Met
ENST00000468526.1:n.263C>T
ENST00000539907.5:c.66+373C>T	ENSP00000437674.1:n.66+373C>T
ENST00000540617.5:c.38C>T	ENSP00000442672.1:p.Thr13Met
NM_000478.4:c.203C>T	NP_000469.3:p.Thr68Met
NM_001127501.2:c.38C>T	NP_001120973.2:p.Thr13Met
NM_001177520.1:c.66+373C>T	NP_001170991.1:n.66+373C>T
XM_005245818.1:c.203C>T	XP_005245875.1:p.Thr68Met
XM_005245820.2:c.203C>T	XP_005245877.1:p.Thr68Met
XM_006710546.1:c.203C>T	XP_006710609.1:p.Thr68Met
NM_000478.5:c.203C>T	NP_000469.3:p.Thr68Met
NM_001127501.3:c.38C>T	NP_001120973.2:p.Thr13Met
NM_001177520.2:c.66+373C>T	NP_001170991.1:n.66+373C>T
XM_006710546.3:c.203C>T	XP_006710609.1:p.Thr68Met
XM_017000903.1:c.67-20C>T	XP_016856392.1:n.67-20C>T
NM_000478.6:c.203C>T MANE Select	NP_000469.3:p.Thr68Met
NM_001127501.4:c.38C>T	NP_001120973.2:p.Thr13Met
NM_001177520.3:c.66+373C>T	NP_001170991.1:n.66+373C>T
NM_001369803.2:c.203C>T	NP_001356732.1:p.Thr68Met
NM_001369804.2:c.203C>T	NP_001356733.1:p.Thr68Met
NM_001369805.2:c.203C>T	NP_001356734.1:p.Thr68Met