Canonical Allele Identifier: CA274142

Gene: ALPL

Linked Data

• ClinVar Variation Id: 188928
• ClinVar RCV Id: RCV000169295 ; RCV001204937 ; RCV003474904 ; RCV004552944
• dbSNP Id: rs781264043
• ExAC: 1:21887623 T / C
• gnomAD v2: 1-21887623-T-C
• gnomAD v3: 1-21561130-T-C
• gnomAD v4: 1-21561130-T-C
• MyVariant Identifiers: chr1:g.21887623T>C (hg19) ; chr1:g.21561130T>C (hg38)
• PubMed: PMID:19500388 ; PMID:22397652

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561130T>C , CM000663.2:g.21561130T>C	GRCh38
NC_000001.10:g.21887623T>C , CM000663.1:g.21887623T>C	GRCh37
NC_000001.9:g.21760210T>C	NCBI36
NG_008940.1:g.56766T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.215T>C MANE Select	ENSP00000363973.3:p.Ile72Thr
ENST00000374832.5:c.215T>C	ENSP00000363965.1:p.Ile72Thr
ENST00000374840.7:c.215T>C	ENSP00000363973.3:p.Ile72Thr
ENST00000468526.1:n.275T>C
ENST00000539907.5:c.66+385T>C	ENSP00000437674.1:n.66+385T>C
ENST00000540617.5:c.50T>C	ENSP00000442672.1:p.Ile17Thr
NM_000478.4:c.215T>C	NP_000469.3:p.Ile72Thr
NM_001127501.2:c.50T>C	NP_001120973.2:p.Ile17Thr
NM_001177520.1:c.66+385T>C	NP_001170991.1:n.66+385T>C
XM_005245818.1:c.215T>C	XP_005245875.1:p.Ile72Thr
XM_005245820.2:c.215T>C	XP_005245877.1:p.Ile72Thr
XM_006710546.1:c.215T>C	XP_006710609.1:p.Ile72Thr
NM_000478.5:c.215T>C	NP_000469.3:p.Ile72Thr
NM_001127501.3:c.50T>C	NP_001120973.2:p.Ile17Thr
NM_001177520.2:c.66+385T>C	NP_001170991.1:n.66+385T>C
XM_006710546.3:c.215T>C	XP_006710609.1:p.Ile72Thr
XM_017000903.1:c.67-8T>C	XP_016856392.1:n.67-8T>C
NM_000478.6:c.215T>C MANE Select	NP_000469.3:p.Ile72Thr
NM_001127501.4:c.50T>C	NP_001120973.2:p.Ile17Thr
NM_001177520.3:c.66+385T>C	NP_001170991.1:n.66+385T>C
NM_001369803.2:c.215T>C	NP_001356732.1:p.Ile72Thr
NM_001369804.2:c.215T>C	NP_001356733.1:p.Ile72Thr
NM_001369805.2:c.215T>C	NP_001356734.1:p.Ile72Thr