Canonical Allele Identifier: CA338877148

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1466600
• ClinVar RCV Id: RCV001966113
• dbSNP Id: rs121918013
• gnomAD v4: 1-21563158-G-T
• MyVariant Identifiers: chr1:g.21889651G>T (hg19) ; chr1:g.21563158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563158G>T , CM000663.2:g.21563158G>T	GRCh38
NC_000001.10:g.21889651G>T , CM000663.1:g.21889651G>T	GRCh37
NC_000001.9:g.21762238G>T	NCBI36
NG_008940.1:g.58794G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.346G>T MANE Select	ENSP00000363973.3:p.Ala116Ser
ENST00000374832.5:c.346G>T	ENSP00000363965.1:p.Ala116Ser
ENST00000374840.7:c.346G>T	ENSP00000363973.3:p.Ala116Ser
ENST00000468526.1:n.406G>T
ENST00000539907.5:c.115G>T	ENSP00000437674.1:p.Ala39Ser
ENST00000540617.5:c.181G>T	ENSP00000442672.1:p.Ala61Ser
NM_000478.4:c.346G>T	NP_000469.3:p.Ala116Ser
NM_001127501.2:c.181G>T	NP_001120973.2:p.Ala61Ser
NM_001177520.1:c.115G>T	NP_001170991.1:p.Ala39Ser
XM_005245818.1:c.346G>T	XP_005245875.1:p.Ala116Ser
XM_005245820.2:c.346G>T	XP_005245877.1:p.Ala116Ser
XM_006710546.1:c.346G>T	XP_006710609.1:p.Ala116Ser
NM_000478.5:c.346G>T	NP_000469.3:p.Ala116Ser
NM_001127501.3:c.181G>T	NP_001120973.2:p.Ala61Ser
NM_001177520.2:c.115G>T	NP_001170991.1:p.Ala39Ser
XM_006710546.3:c.346G>T	XP_006710609.1:p.Ala116Ser
XM_017000903.1:c.190G>T	XP_016856392.1:p.Ala64Ser
NM_000478.6:c.346G>T MANE Select	NP_000469.3:p.Ala116Ser
NM_001127501.4:c.181G>T	NP_001120973.2:p.Ala61Ser
NM_001177520.3:c.115G>T	NP_001170991.1:p.Ala39Ser
NM_001369803.2:c.346G>T	NP_001356732.1:p.Ala116Ser
NM_001369804.2:c.346G>T	NP_001356733.1:p.Ala116Ser
NM_001369805.2:c.346G>T	NP_001356734.1:p.Ala116Ser