Canonical Allele Identifier: CA338879932

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1997511
• ClinVar RCV Id: RCV002791812
• gnomAD v4: 1-21570335-C-T
• MyVariant Identifiers: chr1:g.21896828C>T (hg19) ; chr1:g.21570335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570335C>T , CM000663.2:g.21570335C>T	GRCh38
NC_000001.10:g.21896828C>T , CM000663.1:g.21896828C>T	GRCh37
NC_000001.9:g.21769415C>T	NCBI36
NG_008940.1:g.65971C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.823C>T MANE Select	ENSP00000363973.3:p.Leu275Phe
ENST00000374830.2:c.33C>T
ENST00000374832.5:c.823C>T	ENSP00000363965.1:p.Leu275Phe
ENST00000374840.7:c.823C>T	ENSP00000363973.3:p.Leu275Phe
ENST00000539907.5:c.592C>T	ENSP00000437674.1:p.Leu198Phe
ENST00000540617.5:c.658C>T	ENSP00000442672.1:p.Leu220Phe
NM_000478.4:c.823C>T	NP_000469.3:p.Leu275Phe
NM_001127501.2:c.658C>T	NP_001120973.2:p.Leu220Phe
NM_001177520.1:c.592C>T	NP_001170991.1:p.Leu198Phe
XM_005245818.1:c.823C>T	XP_005245875.1:p.Leu275Phe
XM_005245820.2:c.823C>T	XP_005245877.1:p.Leu275Phe
XM_006710546.1:c.823C>T	XP_006710609.1:p.Leu275Phe
NM_000478.5:c.823C>T	NP_000469.3:p.Leu275Phe
NM_001127501.3:c.658C>T	NP_001120973.2:p.Leu220Phe
NM_001177520.2:c.592C>T	NP_001170991.1:p.Leu198Phe
XM_006710546.3:c.823C>T	XP_006710609.1:p.Leu275Phe
XM_017000903.1:c.667C>T	XP_016856392.1:p.Leu223Phe
NM_000478.6:c.823C>T MANE Select	NP_000469.3:p.Leu275Phe
NM_001127501.4:c.658C>T	NP_001120973.2:p.Leu220Phe
NM_001177520.3:c.592C>T	NP_001170991.1:p.Leu198Phe
NM_001369803.2:c.823C>T	NP_001356732.1:p.Leu275Phe
NM_001369804.2:c.823C>T	NP_001356733.1:p.Leu275Phe
NM_001369805.2:c.823C>T	NP_001356734.1:p.Leu275Phe