Canonical Allele Identifier: CA666839
Gene: ALPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21577454G>A
GRCh37 chr1:g.21903947G>A
Revel Score:
ENST00000539907 0.292
ENST00000540617 0.292
ENST00000374840 (MANE Select) 0.292
ENST00000374832 0.292
ENST00000425315 0.292
ENST00000374830 0.292
ENST00000374829 0.292
gnomAD v2:
1:21903947 G / A
gnomAD v3:
1:21577454 G / A
gnomAD v4:
chr1-21577454-G-A
Joint Max Group AF 0.02617538 (AFR)
Genomes Max Group AF 0.02636201 (AFR)
Exomes Max Group AF 0.02504984 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21577454G>A , CM000663.2:g.21577454G>A GRCh38
NC_000001.10:g.21903947G>A , CM000663.1:g.21903947G>A GRCh37
NC_000001.9:g.21776534G>A NCBI36
NG_008940.1:g.73090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.1381G>A MANE Select ENSP00000363973.3:p.Val461Ile
ENST00000374829.2:n.650G>A
ENST00000374830.2:c.456G>A
ENST00000374832.5:c.1381G>A ENSP00000363965.1:p.Val461Ile
ENST00000374840.7:c.1381G>A ENSP00000363973.3:p.Val461Ile
ENST00000539907.5:c.1150G>A ENSP00000437674.1:p.Val384Ile
ENST00000540617.5:c.1216G>A ENSP00000442672.1:p.Val406Ile
NM_000478.4:c.1381G>A NP_000469.3:p.Val461Ile
NM_001127501.2:c.1216G>A NP_001120973.2:p.Val406Ile
NM_001177520.1:c.1150G>A NP_001170991.1:p.Val384Ile
XM_005245818.1:c.1381G>A XP_005245875.1:p.Val461Ile
XM_006710546.1:c.1381G>A XP_006710609.1:p.Val461Ile
NM_000478.5:c.1381G>A NP_000469.3:p.Val461Ile
NM_001127501.3:c.1216G>A NP_001120973.2:p.Val406Ile
NM_001177520.2:c.1150G>A NP_001170991.1:p.Val384Ile
XM_006710546.3:c.1381G>A XP_006710609.1:p.Val461Ile
XM_017000903.1:c.1225G>A XP_016856392.1:p.Val409Ile
NM_000478.6:c.1381G>A MANE Select NP_000469.3:p.Val461Ile
NM_001127501.4:c.1216G>A NP_001120973.2:p.Val406Ile
NM_001177520.3:c.1150G>A NP_001170991.1:p.Val384Ile
NM_001369803.2:c.1381G>A NP_001356732.1:p.Val461Ile
NM_001369804.2:c.1381G>A NP_001356733.1:p.Val461Ile
NM_001369805.2:c.1381G>A NP_001356734.1:p.Val461Ile
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