Canonical Allele Identifier: CA19065019

Gene: ALPL

Linked Data

• dbSNP Id: rs545029372
• gnomAD v3: 1-21570242-T-C
• gnomAD v4: 1-21570242-T-C
• MyVariant Identifiers: chr1:g.21896735T>C (hg19) ; chr1:g.21570242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570242T>C , CM000663.2:g.21570242T>C	GRCh38
NC_000001.10:g.21896735T>C , CM000663.1:g.21896735T>C	GRCh37
NC_000001.9:g.21769322T>C	NCBI36
NG_008940.1:g.65878T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.793-63T>C MANE Select	ENSP00000363973.3:n.793-63T>C
ENST00000374832.5:c.793-63T>C	ENSP00000363965.1:n.793-63T>C
ENST00000374840.7:c.793-63T>C	ENSP00000363973.3:n.793-63T>C
ENST00000539907.5:c.562-63T>C	ENSP00000437674.1:n.562-63T>C
ENST00000540617.5:c.628-63T>C	ENSP00000442672.1:n.628-63T>C
NM_000478.4:c.793-63T>C	NP_000469.3:n.793-63T>C
NM_001127501.2:c.628-63T>C	NP_001120973.2:n.628-63T>C
NM_001177520.1:c.562-63T>C	NP_001170991.1:n.562-63T>C
XM_005245818.1:c.793-63T>C	XP_005245875.1:n.793-63T>C
XM_005245820.2:c.793-63T>C	XP_005245877.1:n.793-63T>C
XM_006710546.1:c.793-63T>C	XP_006710609.1:n.793-63T>C
NM_000478.5:c.793-63T>C	NP_000469.3:n.793-63T>C
NM_001127501.3:c.628-63T>C	NP_001120973.2:n.628-63T>C
NM_001177520.2:c.562-63T>C	NP_001170991.1:n.562-63T>C
XM_006710546.3:c.793-63T>C	XP_006710609.1:n.793-63T>C
XM_017000903.1:c.637-63T>C	XP_016856392.1:n.637-63T>C
NM_000478.6:c.793-63T>C MANE Select	NP_000469.3:n.793-63T>C
NM_001127501.4:c.628-63T>C	NP_001120973.2:n.628-63T>C
NM_001177520.3:c.562-63T>C	NP_001170991.1:n.562-63T>C
NM_001369803.2:c.793-63T>C	NP_001356732.1:n.793-63T>C
NM_001369804.2:c.793-63T>C	NP_001356733.1:n.793-63T>C
NM_001369805.2:c.793-63T>C	NP_001356734.1:n.793-63T>C