Canonical Allele Identifier: CA666527

Gene: ALPL

Linked Data

• ClinVar Variation Id: 521379
• ClinVar RCV Id: RCV000674297 ; RCV000623730 ; RCV001046115 ; RCV001730702 ; RCV002279446 ; RCV003465357
• dbSNP Id: rs763159520
• ExAC: 1:21890611 C / T
• gnomAD v2: 1-21890611-C-T
• gnomAD v3: 1-21564118-C-T
• gnomAD v4: 1-21564118-C-T
• COSMIC: COSM5091788
• MyVariant Identifiers: chr1:g.21890611C>T (hg19) ; chr1:g.21564118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21564118C>T , CM000663.2:g.21564118C>T	GRCh38
NC_000001.10:g.21890611C>T , CM000663.1:g.21890611C>T	GRCh37
NC_000001.9:g.21763198C>T	NCBI36
NG_008940.1:g.59754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.550C>T MANE Select	ENSP00000363973.3:p.Arg184Trp
ENST00000374832.5:c.550C>T	ENSP00000363965.1:p.Arg184Trp
ENST00000374840.7:c.550C>T	ENSP00000363973.3:p.Arg184Trp
ENST00000468526.1:n.610C>T
ENST00000539907.5:c.319C>T	ENSP00000437674.1:p.Arg107Trp
ENST00000540617.5:c.385C>T	ENSP00000442672.1:p.Arg129Trp
NM_000478.4:c.550C>T	NP_000469.3:p.Arg184Trp
NM_001127501.2:c.385C>T	NP_001120973.2:p.Arg129Trp
NM_001177520.1:c.319C>T	NP_001170991.1:p.Arg107Trp
XM_005245818.1:c.550C>T	XP_005245875.1:p.Arg184Trp
XM_005245820.2:c.550C>T	XP_005245877.1:p.Arg184Trp
XM_006710546.1:c.550C>T	XP_006710609.1:p.Arg184Trp
NM_000478.5:c.550C>T	NP_000469.3:p.Arg184Trp
NM_001127501.3:c.385C>T	NP_001120973.2:p.Arg129Trp
NM_001177520.2:c.319C>T	NP_001170991.1:p.Arg107Trp
XM_006710546.3:c.550C>T	XP_006710609.1:p.Arg184Trp
XM_017000903.1:c.394C>T	XP_016856392.1:p.Arg132Trp
NM_000478.6:c.550C>T MANE Select	NP_000469.3:p.Arg184Trp
NM_001127501.4:c.385C>T	NP_001120973.2:p.Arg129Trp
NM_001177520.3:c.319C>T	NP_001170991.1:p.Arg107Trp
NM_001369803.2:c.550C>T	NP_001356732.1:p.Arg184Trp
NM_001369804.2:c.550C>T	NP_001356733.1:p.Arg184Trp
NM_001369805.2:c.550C>T	NP_001356734.1:p.Arg184Trp