Canonical Allele Identifier: CA19088076
Gene: ALPL HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.21560674T>C
GRCh37 chr1:g.21887167T>C
Revel Score:
ENST00000374840 (MANE Select) 0.936
ENST00000374832 0.936
ENST00000425315 0.936
gnomAD v2:
1:21887167 T / C
gnomAD v3:
1:21560674 T / C
gnomAD v4:
chr1-21560674-T-C
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV002630052
RCV003475519
ClinVar Variation:
2202712
dbSNP:
143358506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560674T>C , CM000663.2:g.21560674T>C GRCh38
NC_000001.10:g.21887167T>C , CM000663.1:g.21887167T>C GRCh37
NC_000001.9:g.21759754T>C NCBI36
NG_008940.1:g.56310T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.110T>C MANE Select ENSP00000363973.3:p.Leu37Pro
ENST00000374832.5:c.110T>C ENSP00000363965.1:p.Leu37Pro
ENST00000374840.7:c.110T>C ENSP00000363973.3:p.Leu37Pro
ENST00000468526.1:n.170T>C
ENST00000539907.5:c.-6T>C ENSP00000437674.1:n.-6T>C
ENST00000540617.5:c.-56T>C ENSP00000442672.1:n.-56T>C
NM_000478.4:c.110T>C NP_000469.3:p.Leu37Pro
NM_001127501.2:c.-56T>C NP_001120973.2:n.-56T>C
NM_001177520.1:c.-6T>C NP_001170991.1:n.-6T>C
XM_005245818.1:c.110T>C XP_005245875.1:p.Leu37Pro
XM_005245820.2:c.110T>C XP_005245877.1:p.Leu37Pro
XM_006710546.1:c.110T>C XP_006710609.1:p.Leu37Pro
NM_000478.5:c.110T>C NP_000469.3:p.Leu37Pro
NM_001127501.3:c.-56T>C NP_001120973.2:n.-56T>C
NM_001177520.2:c.-6T>C NP_001170991.1:n.-6T>C
XM_006710546.3:c.110T>C XP_006710609.1:p.Leu37Pro
NM_000478.6:c.110T>C MANE Select NP_000469.3:p.Leu37Pro
NM_001127501.4:c.-56T>C NP_001120973.2:n.-56T>C
NM_001177520.3:c.-6T>C NP_001170991.1:n.-6T>C
NM_001369803.2:c.110T>C NP_001356732.1:p.Leu37Pro
NM_001369804.2:c.110T>C NP_001356733.1:p.Leu37Pro
NM_001369805.2:c.110T>C NP_001356734.1:p.Leu37Pro
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