Canonical Allele Identifier: CA666428

Gene: ALPL

Linked Data

• dbSNP Id: rs776012191
• ExAC: 1:21887567 G / C
• gnomAD v2: 1-21887567-G-C
• gnomAD v4: 1-21561074-G-C
• MyVariant Identifiers: chr1:g.21887567G>C (hg19) ; chr1:g.21561074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561074G>C , CM000663.2:g.21561074G>C	GRCh38
NC_000001.10:g.21887567G>C , CM000663.1:g.21887567G>C	GRCh37
NC_000001.9:g.21760154G>C	NCBI36
NG_008940.1:g.56710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.182-23G>C MANE Select	ENSP00000363973.3:n.182-23G>C
ENST00000374832.5:c.182-23G>C	ENSP00000363965.1:n.182-23G>C
ENST00000374840.7:c.182-23G>C	ENSP00000363973.3:n.182-23G>C
ENST00000468526.1:n.242-23G>C
ENST00000539907.5:c.66+329G>C	ENSP00000437674.1:n.66+329G>C
ENST00000540617.5:c.17-23G>C	ENSP00000442672.1:n.17-23G>C
NM_000478.4:c.182-23G>C	NP_000469.3:n.182-23G>C
NM_001127501.2:c.17-23G>C	NP_001120973.2:n.17-23G>C
NM_001177520.1:c.66+329G>C	NP_001170991.1:n.66+329G>C
XM_005245818.1:c.182-23G>C	XP_005245875.1:n.182-23G>C
XM_005245820.2:c.182-23G>C	XP_005245877.1:n.182-23G>C
XM_006710546.1:c.182-23G>C	XP_006710609.1:n.182-23G>C
NM_000478.5:c.182-23G>C	NP_000469.3:n.182-23G>C
NM_001127501.3:c.17-23G>C	NP_001120973.2:n.17-23G>C
NM_001177520.2:c.66+329G>C	NP_001170991.1:n.66+329G>C
XM_006710546.3:c.182-23G>C	XP_006710609.1:n.182-23G>C
XM_017000903.1:c.67-64G>C	XP_016856392.1:n.67-64G>C
NM_000478.6:c.182-23G>C MANE Select	NP_000469.3:n.182-23G>C
NM_001127501.4:c.17-23G>C	NP_001120973.2:n.17-23G>C
NM_001177520.3:c.66+329G>C	NP_001170991.1:n.66+329G>C
NM_001369803.2:c.182-23G>C	NP_001356732.1:n.182-23G>C
NM_001369804.2:c.182-23G>C	NP_001356733.1:n.182-23G>C
NM_001369805.2:c.182-23G>C	NP_001356734.1:n.182-23G>C