Canonical Allele Identifier: CA256925
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 13668
ClinVar RCV Id: RCV000014656
dbSNP Id: rs121918006

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21576638T>C , CM000663.2:g.21576638T>C GRCh38
NC_000001.10:g.21903131T>C , CM000663.1:g.21903131T>C GRCh37
NC_000001.9:g.21775718T>C NCBI36
NG_008940.1:g.72274T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.1306T>C MANE Select ENSP00000363973.3:p.Tyr436His
ENST00000374829.2:n.575T>C
ENST00000374830.2:c.381T>C
ENST00000374832.5:c.1306T>C ENSP00000363965.1:p.Tyr436His
ENST00000374840.7:c.1306T>C ENSP00000363973.3:p.Tyr436His
ENST00000539907.5:c.1075T>C ENSP00000437674.1:p.Tyr359His
ENST00000540617.5:c.1141T>C ENSP00000442672.1:p.Tyr381His
NM_000478.4:c.1306T>C NP_000469.3:p.Tyr436His
NM_001127501.2:c.1141T>C NP_001120973.2:p.Tyr381His
NM_001177520.1:c.1075T>C NP_001170991.1:p.Tyr359His
XM_005245818.1:c.1306T>C XP_005245875.1:p.Tyr436His
XM_006710546.1:c.1306T>C XP_006710609.1:p.Tyr436His
NM_000478.5:c.1306T>C NP_000469.3:p.Tyr436His
NM_001127501.3:c.1141T>C NP_001120973.2:p.Tyr381His
NM_001177520.2:c.1075T>C NP_001170991.1:p.Tyr359His
XM_006710546.3:c.1306T>C XP_006710609.1:p.Tyr436His
XM_017000903.1:c.1150T>C XP_016856392.1:p.Tyr384His
NM_000478.6:c.1306T>C MANE Select NP_000469.3:p.Tyr436His
NM_001127501.4:c.1141T>C NP_001120973.2:p.Tyr381His
NM_001177520.3:c.1075T>C NP_001170991.1:p.Tyr359His
NM_001369803.2:c.1306T>C NP_001356732.1:p.Tyr436His
NM_001369804.2:c.1306T>C NP_001356733.1:p.Tyr436His
NM_001369805.2:c.1306T>C NP_001356734.1:p.Tyr436His