Canonical Allele Identifier: CA666680
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 287510
dbSNP Id: rs768555495
gnomAD v2: 1-21900215-C-T
gnomAD v3: 1-21573722-C-T
gnomAD v4: 1-21573722-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573722C>T , CM000663.2:g.21573722C>T GRCh38
NC_000001.10:g.21900215C>T , CM000663.1:g.21900215C>T GRCh37
NC_000001.9:g.21772802C>T NCBI36
NG_008940.1:g.69358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.920C>T MANE Select ENSP00000363973.3:p.Pro307Leu
ENST00000374830.2:c.73-2011C>T
ENST00000374832.5:c.920C>T ENSP00000363965.1:p.Pro307Leu
ENST00000374840.7:c.920C>T ENSP00000363973.3:p.Pro307Leu
ENST00000539907.5:c.689C>T ENSP00000437674.1:p.Pro230Leu
ENST00000540617.5:c.755C>T ENSP00000442672.1:p.Pro252Leu
NM_000478.4:c.920C>T NP_000469.3:p.Pro307Leu
NM_001127501.2:c.755C>T NP_001120973.2:p.Pro252Leu
NM_001177520.1:c.689C>T NP_001170991.1:p.Pro230Leu
XM_005245818.1:c.920C>T XP_005245875.1:p.Pro307Leu
XM_005245820.2:c.920C>T XP_005245877.1:p.Pro307Leu
XM_006710546.1:c.920C>T XP_006710609.1:p.Pro307Leu
NM_000478.5:c.920C>T NP_000469.3:p.Pro307Leu
NM_001127501.3:c.755C>T NP_001120973.2:p.Pro252Leu
NM_001177520.2:c.689C>T NP_001170991.1:p.Pro230Leu
XM_006710546.3:c.920C>T XP_006710609.1:p.Pro307Leu
XM_017000903.1:c.764C>T XP_016856392.1:p.Pro255Leu
NM_000478.6:c.920C>T MANE Select NP_000469.3:p.Pro307Leu
NM_001127501.4:c.755C>T NP_001120973.2:p.Pro252Leu
NM_001177520.3:c.689C>T NP_001170991.1:p.Pro230Leu
NM_001369803.2:c.920C>T NP_001356732.1:p.Pro307Leu
NM_001369804.2:c.920C>T NP_001356733.1:p.Pro307Leu
NM_001369805.2:c.920C>T NP_001356734.1:p.Pro307Leu