Canonical Allele Identifier: CA666686

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2380759
• ClinVar RCV Id: RCV002679247
• dbSNP Id: rs552250079
• ExAC: 1:21900232 G / C
• gnomAD v2: 1-21900232-G-C
• gnomAD v3: 1-21573739-G-C
• gnomAD v4: 1-21573739-G-C
• MyVariant Identifiers: chr1:g.21900232G>C (hg19) ; chr1:g.21573739G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573739G>C , CM000663.2:g.21573739G>C	GRCh38
NC_000001.10:g.21900232G>C , CM000663.1:g.21900232G>C	GRCh37
NC_000001.9:g.21772819G>C	NCBI36
NG_008940.1:g.69375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.937G>C MANE Select	ENSP00000363973.3:p.Val313Leu
ENST00000374830.2:c.73-1994G>C
ENST00000374832.5:c.937G>C	ENSP00000363965.1:p.Val313Leu
ENST00000374840.7:c.937G>C	ENSP00000363973.3:p.Val313Leu
ENST00000539907.5:c.706G>C	ENSP00000437674.1:p.Val236Leu
ENST00000540617.5:c.772G>C	ENSP00000442672.1:p.Val258Leu
NM_000478.4:c.937G>C	NP_000469.3:p.Val313Leu
NM_001127501.2:c.772G>C	NP_001120973.2:p.Val258Leu
NM_001177520.1:c.706G>C	NP_001170991.1:p.Val236Leu
XM_005245818.1:c.937G>C	XP_005245875.1:p.Val313Leu
XM_005245820.2:c.937G>C	XP_005245877.1:p.Val313Leu
XM_006710546.1:c.937G>C	XP_006710609.1:p.Val313Leu
NM_000478.5:c.937G>C	NP_000469.3:p.Val313Leu
NM_001127501.3:c.772G>C	NP_001120973.2:p.Val258Leu
NM_001177520.2:c.706G>C	NP_001170991.1:p.Val236Leu
XM_006710546.3:c.937G>C	XP_006710609.1:p.Val313Leu
XM_017000903.1:c.781G>C	XP_016856392.1:p.Val261Leu
NM_000478.6:c.937G>C MANE Select	NP_000469.3:p.Val313Leu
NM_001127501.4:c.772G>C	NP_001120973.2:p.Val258Leu
NM_001177520.3:c.706G>C	NP_001170991.1:p.Val236Leu
NM_001369803.2:c.937G>C	NP_001356732.1:p.Val313Leu
NM_001369804.2:c.937G>C	NP_001356733.1:p.Val313Leu
NM_001369805.2:c.937G>C	NP_001356734.1:p.Val313Leu