Canonical Allele Identifier: CA416532662
Gene: ALPL HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.21900253C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573760C>T , CM000663.2:g.21573760C>T GRCh38
NC_000001.10:g.21900253C>T , CM000663.1:g.21900253C>T GRCh37
NC_000001.9:g.21772840C>T NCBI36
NG_008940.1:g.69396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.958C>T MANE Select ENSP00000363973.3:p.Leu320=
ENST00000374830.2:c.73-1973C>T
ENST00000374832.5:c.958C>T ENSP00000363965.1:p.Leu320=
ENST00000374840.7:c.958C>T ENSP00000363973.3:p.Leu320=
ENST00000539907.5:c.727C>T ENSP00000437674.1:p.Leu243=
ENST00000540617.5:c.793C>T ENSP00000442672.1:p.Leu265=
NM_000478.4:c.958C>T NP_000469.3:p.Leu320=
NM_001127501.2:c.793C>T NP_001120973.2:p.Leu265=
NM_001177520.1:c.727C>T NP_001170991.1:p.Leu243=
XM_005245818.1:c.958C>T XP_005245875.1:p.Leu320=
XM_005245820.2:c.958C>T XP_005245877.1:p.Leu320=
XM_006710546.1:c.958C>T XP_006710609.1:p.Leu320=
NM_000478.5:c.958C>T NP_000469.3:p.Leu320=
NM_001127501.3:c.793C>T NP_001120973.2:p.Leu265=
NM_001177520.2:c.727C>T NP_001170991.1:p.Leu243=
XM_006710546.3:c.958C>T XP_006710609.1:p.Leu320=
XM_017000903.1:c.802C>T XP_016856392.1:p.Leu268=
NM_000478.6:c.958C>T MANE Select NP_000469.3:p.Leu320=
NM_001127501.4:c.793C>T NP_001120973.2:p.Leu265=
NM_001177520.3:c.727C>T NP_001170991.1:p.Leu243=
NM_001369803.2:c.958C>T NP_001356732.1:p.Leu320=
NM_001369804.2:c.958C>T NP_001356733.1:p.Leu320=
NM_001369805.2:c.958C>T NP_001356734.1:p.Leu320=