Canonical Allele Identifier: CA256930

Gene: ALPL

Linked Data

• ClinVar Variation Id: 13673
• ClinVar RCV Id: RCV000014664 ; RCV000207096 ; RCV000380876 ; RCV000724148 ; RCV002504786 ; RCV004549366
• dbSNP Id: rs121918010
• ExAC: 1:21900274 T / C
• gnomAD v2: 1-21900274-T-C
• gnomAD v3: 1-21573781-T-C
• gnomAD v4: 1-21573781-T-C
• MyVariant Identifiers: chr1:g.21900274T>C (hg19) ; chr1:g.21573781T>C (hg38)
• PubMed: PMID:8954059 ; PMID:18455459 ; PMID:20301329 ; PMID:24276437 ; PMID:25023282

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573781T>C , CM000663.2:g.21573781T>C	GRCh38
NC_000001.10:g.21900274T>C , CM000663.1:g.21900274T>C	GRCh37
NC_000001.9:g.21772861T>C	NCBI36
NG_008940.1:g.69417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.979T>C MANE Select	ENSP00000363973.3:p.Phe327Leu
ENST00000374830.2:c.73-1952T>C
ENST00000374832.5:c.979T>C	ENSP00000363965.1:p.Phe327Leu
ENST00000374840.7:c.979T>C	ENSP00000363973.3:p.Phe327Leu
ENST00000539907.5:c.748T>C	ENSP00000437674.1:p.Phe250Leu
ENST00000540617.5:c.814T>C	ENSP00000442672.1:p.Phe272Leu
NM_000478.4:c.979T>C	NP_000469.3:p.Phe327Leu
NM_001127501.2:c.814T>C	NP_001120973.2:p.Phe272Leu
NM_001177520.1:c.748T>C	NP_001170991.1:p.Phe250Leu
XM_005245818.1:c.979T>C	XP_005245875.1:p.Phe327Leu
XM_005245820.2:c.979T>C	XP_005245877.1:p.Phe327Leu
XM_006710546.1:c.979T>C	XP_006710609.1:p.Phe327Leu
NM_000478.5:c.979T>C	NP_000469.3:p.Phe327Leu
NM_001127501.3:c.814T>C	NP_001120973.2:p.Phe272Leu
NM_001177520.2:c.748T>C	NP_001170991.1:p.Phe250Leu
XM_006710546.3:c.979T>C	XP_006710609.1:p.Phe327Leu
XM_017000903.1:c.823T>C	XP_016856392.1:p.Phe275Leu
NM_000478.6:c.979T>C MANE Select	NP_000469.3:p.Phe327Leu
NM_001127501.4:c.814T>C	NP_001120973.2:p.Phe272Leu
NM_001177520.3:c.748T>C	NP_001170991.1:p.Phe250Leu
NM_001369803.2:c.979T>C	NP_001356732.1:p.Phe327Leu
NM_001369804.2:c.979T>C	NP_001356733.1:p.Phe327Leu
NM_001369805.2:c.979T>C	NP_001356734.1:p.Phe327Leu