Canonical Allele Identifier: CA338881060

Gene: ALPL

Linked Data

• ClinVar Variation Id: 550707
• ClinVar RCV Id: RCV000665524
• dbSNP Id: rs1553414560
• COSMIC: COSM159029
• MyVariant Identifiers: chr1:g.21902267C>T (hg19) ; chr1:g.21575774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575774C>T , CM000663.2:g.21575774C>T	GRCh38
NC_000001.10:g.21902267C>T , CM000663.1:g.21902267C>T	GRCh37
NC_000001.9:g.21774854C>T	NCBI36
NG_008940.1:g.71410C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.1039C>T MANE Select	ENSP00000363973.3:p.Gln347Ter
ENST00000374829.2:n.308C>T
ENST00000374830.2:c.114C>T
ENST00000374832.5:c.1039C>T	ENSP00000363965.1:p.Gln347Ter
ENST00000374840.7:c.1039C>T	ENSP00000363973.3:p.Gln347Ter
ENST00000539907.5:c.808C>T	ENSP00000437674.1:p.Gln270Ter
ENST00000540617.5:c.874C>T	ENSP00000442672.1:p.Gln292Ter
NM_000478.4:c.1039C>T	NP_000469.3:p.Gln347Ter
NM_001127501.2:c.874C>T	NP_001120973.2:p.Gln292Ter
NM_001177520.1:c.808C>T	NP_001170991.1:p.Gln270Ter
XM_005245818.1:c.1039C>T	XP_005245875.1:p.Gln347Ter
XM_006710546.1:c.1039C>T	XP_006710609.1:p.Gln347Ter
NM_000478.5:c.1039C>T	NP_000469.3:p.Gln347Ter
NM_001127501.3:c.874C>T	NP_001120973.2:p.Gln292Ter
NM_001177520.2:c.808C>T	NP_001170991.1:p.Gln270Ter
XM_006710546.3:c.1039C>T	XP_006710609.1:p.Gln347Ter
XM_017000903.1:c.883C>T	XP_016856392.1:p.Gln295Ter
NM_000478.6:c.1039C>T MANE Select	NP_000469.3:p.Gln347Ter
NM_001127501.4:c.874C>T	NP_001120973.2:p.Gln292Ter
NM_001177520.3:c.808C>T	NP_001170991.1:p.Gln270Ter
NM_001369803.2:c.1039C>T	NP_001356732.1:p.Gln347Ter
NM_001369804.2:c.1039C>T	NP_001356733.1:p.Gln347Ter
NM_001369805.2:c.1039C>T	NP_001356734.1:p.Gln347Ter