Canonical Allele Identifier: CA338877713

Gene: ALPL

Linked Data

• MyVariant Identifiers: chr1:g.21887226T>C (hg19) ; chr1:g.21560733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560733T>C , CM000663.2:g.21560733T>C	GRCh38
NC_000001.10:g.21887226T>C , CM000663.1:g.21887226T>C	GRCh37
NC_000001.9:g.21759813T>C	NCBI36
NG_008940.1:g.56369T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.169T>C MANE Select	ENSP00000363973.3:p.Phe57Leu
ENST00000374832.5:c.169T>C	ENSP00000363965.1:p.Phe57Leu
ENST00000374840.7:c.169T>C	ENSP00000363973.3:p.Phe57Leu
ENST00000468526.1:n.229T>C
ENST00000539907.5:c.54T>C	ENSP00000437674.1:p.Cys18=
ENST00000540617.5:c.4T>C	ENSP00000442672.1:p.Phe2Leu
NM_000478.4:c.169T>C	NP_000469.3:p.Phe57Leu
NM_001127501.2:c.4T>C	NP_001120973.2:p.Phe2Leu
NM_001177520.1:c.54T>C	NP_001170991.1:p.Cys18=
XM_005245818.1:c.169T>C	XP_005245875.1:p.Phe57Leu
XM_005245820.2:c.169T>C	XP_005245877.1:p.Phe57Leu
XM_006710546.1:c.169T>C	XP_006710609.1:p.Phe57Leu
NM_000478.5:c.169T>C	NP_000469.3:p.Phe57Leu
NM_001127501.3:c.4T>C	NP_001120973.2:p.Phe2Leu
NM_001177520.2:c.54T>C	NP_001170991.1:p.Cys18=
XM_006710546.3:c.169T>C	XP_006710609.1:p.Phe57Leu
XM_017000903.1:c.54T>C	XP_016856392.1:p.Cys18=
NM_000478.6:c.169T>C MANE Select	NP_000469.3:p.Phe57Leu
NM_001127501.4:c.4T>C	NP_001120973.2:p.Phe2Leu
NM_001177520.3:c.54T>C	NP_001170991.1:p.Cys18=
NM_001369803.2:c.169T>C	NP_001356732.1:p.Phe57Leu
NM_001369804.2:c.169T>C	NP_001356733.1:p.Phe57Leu
NM_001369805.2:c.169T>C	NP_001356734.1:p.Phe57Leu