Canonical Allele Identifier: CA338881870

Gene: ALPL

Linked Data

• MyVariant Identifiers: chr1:g.21903116G>C (hg19) ; chr1:g.21576623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21576623G>C , CM000663.2:g.21576623G>C	GRCh38
NC_000001.10:g.21903116G>C , CM000663.1:g.21903116G>C	GRCh37
NC_000001.9:g.21775703G>C	NCBI36
NG_008940.1:g.72259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1291G>C MANE Select	ENSP00000363973.3:p.Val431Leu
ENST00000374829.2:n.560G>C
ENST00000374830.2:c.366G>C
ENST00000374832.5:c.1291G>C	ENSP00000363965.1:p.Val431Leu
ENST00000374840.7:c.1291G>C	ENSP00000363973.3:p.Val431Leu
ENST00000539907.5:c.1060G>C	ENSP00000437674.1:p.Val354Leu
ENST00000540617.5:c.1126G>C	ENSP00000442672.1:p.Val376Leu
NM_000478.4:c.1291G>C	NP_000469.3:p.Val431Leu
NM_001127501.2:c.1126G>C	NP_001120973.2:p.Val376Leu
NM_001177520.1:c.1060G>C	NP_001170991.1:p.Val354Leu
XM_005245818.1:c.1291G>C	XP_005245875.1:p.Val431Leu
XM_006710546.1:c.1291G>C	XP_006710609.1:p.Val431Leu
NM_000478.5:c.1291G>C	NP_000469.3:p.Val431Leu
NM_001127501.3:c.1126G>C	NP_001120973.2:p.Val376Leu
NM_001177520.2:c.1060G>C	NP_001170991.1:p.Val354Leu
XM_006710546.3:c.1291G>C	XP_006710609.1:p.Val431Leu
XM_017000903.1:c.1135G>C	XP_016856392.1:p.Val379Leu
NM_000478.6:c.1291G>C MANE Select	NP_000469.3:p.Val431Leu
NM_001127501.4:c.1126G>C	NP_001120973.2:p.Val376Leu
NM_001177520.3:c.1060G>C	NP_001170991.1:p.Val354Leu
NM_001369803.2:c.1291G>C	NP_001356732.1:p.Val431Leu
NM_001369804.2:c.1291G>C	NP_001356733.1:p.Val431Leu
NM_001369805.2:c.1291G>C	NP_001356734.1:p.Val431Leu