Canonical Allele Identifier: CA338878191

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2711593
• ClinVar RCV Id: RCV003545371
• MyVariant Identifiers: chr1:g.21887683T>C (hg19) ; chr1:g.21561190T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561190T>C , CM000663.2:g.21561190T>C	GRCh38
NC_000001.10:g.21887683T>C , CM000663.1:g.21887683T>C	GRCh37
NC_000001.9:g.21760270T>C	NCBI36
NG_008940.1:g.56826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.275T>C MANE Select	ENSP00000363973.3:p.Phe92Ser
ENST00000374832.5:c.275T>C	ENSP00000363965.1:p.Phe92Ser
ENST00000374840.7:c.275T>C	ENSP00000363973.3:p.Phe92Ser
ENST00000468526.1:n.335T>C
ENST00000539907.5:c.66+445T>C	ENSP00000437674.1:n.66+445T>C
ENST00000540617.5:c.110T>C	ENSP00000442672.1:p.Phe37Ser
NM_000478.4:c.275T>C	NP_000469.3:p.Phe92Ser
NM_001127501.2:c.110T>C	NP_001120973.2:p.Phe37Ser
NM_001177520.1:c.66+445T>C	NP_001170991.1:n.66+445T>C
XM_005245818.1:c.275T>C	XP_005245875.1:p.Phe92Ser
XM_005245820.2:c.275T>C	XP_005245877.1:p.Phe92Ser
XM_006710546.1:c.275T>C	XP_006710609.1:p.Phe92Ser
NM_000478.5:c.275T>C	NP_000469.3:p.Phe92Ser
NM_001127501.3:c.110T>C	NP_001120973.2:p.Phe37Ser
NM_001177520.2:c.66+445T>C	NP_001170991.1:n.66+445T>C
XM_006710546.3:c.275T>C	XP_006710609.1:p.Phe92Ser
XM_017000903.1:c.119T>C	XP_016856392.1:p.Phe40Ser
NM_000478.6:c.275T>C MANE Select	NP_000469.3:p.Phe92Ser
NM_001127501.4:c.110T>C	NP_001120973.2:p.Phe37Ser
NM_001177520.3:c.66+445T>C	NP_001170991.1:n.66+445T>C
NM_001369803.2:c.275T>C	NP_001356732.1:p.Phe92Ser
NM_001369804.2:c.275T>C	NP_001356733.1:p.Phe92Ser
NM_001369805.2:c.275T>C	NP_001356734.1:p.Phe92Ser