Canonical Allele Identifier: CA666834

Gene: ALPL

Linked Data

• ClinVar Variation Id: 371400
• ClinVar RCV Id: RCV000411942 ; RCV001045527 ; RCV000778967 ; RCV001580493 ; RCV003470350
• dbSNP Id: rs149889416
• ExAC: 1:21903929 G / A
• gnomAD v2: 1-21903929-G-A
• gnomAD v3: 1-21577436-G-A
• gnomAD v4: 1-21577436-G-A
• MyVariant Identifiers: chr1:g.21903929G>A (hg19) ; chr1:g.21577436G>A (hg38)
• PubMed: PMID:15135428 ; PMID:17719863 ; PMID:25731960 ; PMID:25736332 ; PMID:27179278

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21577436G>A , CM000663.2:g.21577436G>A	GRCh38
NC_000001.10:g.21903929G>A , CM000663.1:g.21903929G>A	GRCh37
NC_000001.9:g.21776516G>A	NCBI36
NG_008940.1:g.73072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1363G>A MANE Select	ENSP00000363973.3:p.Gly455Ser
ENST00000374829.2:n.632G>A
ENST00000374830.2:c.438G>A
ENST00000374832.5:c.1363G>A	ENSP00000363965.1:p.Gly455Ser
ENST00000374840.7:c.1363G>A	ENSP00000363973.3:p.Gly455Ser
ENST00000539907.5:c.1132G>A	ENSP00000437674.1:p.Gly378Ser
ENST00000540617.5:c.1198G>A	ENSP00000442672.1:p.Gly400Ser
NM_000478.4:c.1363G>A	NP_000469.3:p.Gly455Ser
NM_001127501.2:c.1198G>A	NP_001120973.2:p.Gly400Ser
NM_001177520.1:c.1132G>A	NP_001170991.1:p.Gly378Ser
XM_005245818.1:c.1363G>A	XP_005245875.1:p.Gly455Ser
XM_006710546.1:c.1363G>A	XP_006710609.1:p.Gly455Ser
NM_000478.5:c.1363G>A	NP_000469.3:p.Gly455Ser
NM_001127501.3:c.1198G>A	NP_001120973.2:p.Gly400Ser
NM_001177520.2:c.1132G>A	NP_001170991.1:p.Gly378Ser
XM_006710546.3:c.1363G>A	XP_006710609.1:p.Gly455Ser
XM_017000903.1:c.1207G>A	XP_016856392.1:p.Gly403Ser
NM_000478.6:c.1363G>A MANE Select	NP_000469.3:p.Gly455Ser
NM_001127501.4:c.1198G>A	NP_001120973.2:p.Gly400Ser
NM_001177520.3:c.1132G>A	NP_001170991.1:p.Gly378Ser
NM_001369803.2:c.1363G>A	NP_001356732.1:p.Gly455Ser
NM_001369804.2:c.1363G>A	NP_001356733.1:p.Gly455Ser
NM_001369805.2:c.1363G>A	NP_001356734.1:p.Gly455Ser