Canonical Allele Identifier: CA666524

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2676497
• ClinVar RCV Id: RCV003461845 ; RCV003689092
• dbSNP Id: rs201250289
• ExAC: 1:21890595 C / G
• gnomAD v2: 1-21890595-C-G
• gnomAD v3: 1-21564102-C-G
• gnomAD v4: 1-21564102-C-G
• MyVariant Identifiers: chr1:g.21890595C>G (hg19) ; chr1:g.21564102C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21564102C>G , CM000663.2:g.21564102C>G	GRCh38
NC_000001.10:g.21890595C>G , CM000663.1:g.21890595C>G	GRCh37
NC_000001.9:g.21763182C>G	NCBI36
NG_008940.1:g.59738C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.534C>G MANE Select	ENSP00000363973.3:p.Tyr178Ter
ENST00000374832.5:c.534C>G	ENSP00000363965.1:p.Tyr178Ter
ENST00000374840.7:c.534C>G	ENSP00000363973.3:p.Tyr178Ter
ENST00000468526.1:n.594C>G
ENST00000539907.5:c.303C>G	ENSP00000437674.1:p.Tyr101Ter
ENST00000540617.5:c.369C>G	ENSP00000442672.1:p.Tyr123Ter
NM_000478.4:c.534C>G	NP_000469.3:p.Tyr178Ter
NM_001127501.2:c.369C>G	NP_001120973.2:p.Tyr123Ter
NM_001177520.1:c.303C>G	NP_001170991.1:p.Tyr101Ter
XM_005245818.1:c.534C>G	XP_005245875.1:p.Tyr178Ter
XM_005245820.2:c.534C>G	XP_005245877.1:p.Tyr178Ter
XM_006710546.1:c.534C>G	XP_006710609.1:p.Tyr178Ter
NM_000478.5:c.534C>G	NP_000469.3:p.Tyr178Ter
NM_001127501.3:c.369C>G	NP_001120973.2:p.Tyr123Ter
NM_001177520.2:c.303C>G	NP_001170991.1:p.Tyr101Ter
XM_006710546.3:c.534C>G	XP_006710609.1:p.Tyr178Ter
XM_017000903.1:c.378C>G	XP_016856392.1:p.Tyr126Ter
NM_000478.6:c.534C>G MANE Select	NP_000469.3:p.Tyr178Ter
NM_001127501.4:c.369C>G	NP_001120973.2:p.Tyr123Ter
NM_001177520.3:c.303C>G	NP_001170991.1:p.Tyr101Ter
NM_001369803.2:c.534C>G	NP_001356732.1:p.Tyr178Ter
NM_001369804.2:c.534C>G	NP_001356733.1:p.Tyr178Ter
NM_001369805.2:c.534C>G	NP_001356734.1:p.Tyr178Ter