Canonical Allele Identifier: CA16040714

Gene: ALPL

Linked Data

• ClinVar Variation Id: 370178
• ClinVar RCV Id: RCV000408970 ; RCV001389814 ; RCV001175579
• dbSNP Id: rs1057516293
• gnomAD v4: 1-21560694-C-T
• MyVariant Identifiers: chr1:g.21887187C>T (hg19) ; chr1:g.21560694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560694C>T , CM000663.2:g.21560694C>T	GRCh38
NC_000001.10:g.21887187C>T , CM000663.1:g.21887187C>T	GRCh37
NC_000001.9:g.21759774C>T	NCBI36
NG_008940.1:g.56330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.130C>T MANE Select	ENSP00000363973.3:p.Gln44Ter
ENST00000374832.5:c.130C>T	ENSP00000363965.1:p.Gln44Ter
ENST00000374840.7:c.130C>T	ENSP00000363973.3:p.Gln44Ter
ENST00000468526.1:n.190C>T
ENST00000539907.5:c.15C>T	ENSP00000437674.1:p.Phe5=
ENST00000540617.5:c.-36C>T	ENSP00000442672.1:n.-36C>T
NM_000478.4:c.130C>T	NP_000469.3:p.Gln44Ter
NM_001127501.2:c.-36C>T	NP_001120973.2:n.-36C>T
NM_001177520.1:c.15C>T	NP_001170991.1:p.Phe5=
XM_005245818.1:c.130C>T	XP_005245875.1:p.Gln44Ter
XM_005245820.2:c.130C>T	XP_005245877.1:p.Gln44Ter
XM_006710546.1:c.130C>T	XP_006710609.1:p.Gln44Ter
NM_000478.5:c.130C>T	NP_000469.3:p.Gln44Ter
NM_001127501.3:c.-36C>T	NP_001120973.2:n.-36C>T
NM_001177520.2:c.15C>T	NP_001170991.1:p.Phe5=
XM_006710546.3:c.130C>T	XP_006710609.1:p.Gln44Ter
XM_017000903.1:c.15C>T	XP_016856392.1:p.Phe5=
NM_000478.6:c.130C>T MANE Select	NP_000469.3:p.Gln44Ter
NM_001127501.4:c.-36C>T	NP_001120973.2:n.-36C>T
NM_001177520.3:c.15C>T	NP_001170991.1:p.Phe5=
NM_001369803.2:c.130C>T	NP_001356732.1:p.Gln44Ter
NM_001369804.2:c.130C>T	NP_001356733.1:p.Gln44Ter
NM_001369805.2:c.130C>T	NP_001356734.1:p.Gln44Ter