Canonical Allele Identifier: CA16040722
Gene: ALPL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371504
ClinVar RCV Id: RCV000412106
dbSNP Id: rs1057517322

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21575823_21575826dup , CM000663.2:g.21575823_21575826dup GRCh38
NC_000001.10:g.21902316_21902319dup , CM000663.1:g.21902316_21902319dup GRCh37
NC_000001.9:g.21774903_21774906dup NCBI36
NG_008940.1:g.71459_71462dup

Transcript Alleles

HGVS Amino-acid change
NM_000478.4:c.1088_1091dup VV NP_000469.3:p.Ser364ArgfsTer?
NM_001127501.2:c.923_926dup VV NP_001120973.2:p.Ser309ArgfsTer?
NM_001177520.1:c.857_860dup VV NP_001170991.1:p.Ser287ArgfsTer?
XM_005245818.1:c.1088_1091dup XP_005245875.1:p.Ser364ArgfsTer?
XM_006710546.1:c.1088_1091dup XP_006710609.1:p.Ser364ArgfsTer?
NM_000478.5:c.1088_1091dup VV
NM_001127501.3:c.923_926dup VV
NM_001177520.2:c.857_860dup VV
XM_006710546.3:c.1088_1091dup
XM_017000903.1:n.932_935dup XP_016856392.1:p.Ser312ArgfsTer?
ENST00000374829.2:n.357_360dup
ENST00000374830.2:n.163_166dup
ENST00000374832.5:c.1088_1091dup ENSP00000363965.1:p.Ser364ArgfsTer?
ENST00000374840.7:c.1088_1091dup ENSP00000363973.3:p.Ser364ArgfsTer?
ENST00000539907.5:c.857_860dup ENSP00000437674.1:p.Ser287ArgfsTer?
ENST00000540617.5:c.923_926dup ENSP00000442672.1:p.Ser309ArgfsTer?