Canonical Allele Identifier: CA2488494768
Gene: HPCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.10390424A>T , CM000664.2:g.10390424A>T GRCh38
NC_000002.11:g.10530550A>T , CM000664.1:g.10530550A>T GRCh37
NC_000002.10:g.10448001A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000307845.8:c.-110-6411A>T MANE Select ENSP00000310749.3:n.-110-6411A>T
ENST00000307845.7:c.-110-6411A>T ENSP00000310749.3:n.-110-6411A>T
ENST00000381765.7:c.-283-6411A>T ENSP00000371184.3:n.-283-6411A>T
ENST00000419810.6:c.-283-6411A>T ENSP00000416359.2:n.-283-6411A>T
ENST00000423674.5:c.-207-6411A>T ENSP00000413689.1:n.-207-6411A>T
ENST00000613496.4:c.-110-6411A>T ENSP00000478231.1:n.-110-6411A>T
ENST00000620771.4:c.-110-6411A>T ENSP00000483786.1:n.-110-6411A>T
ENST00000622018.4:c.-110-6411A>T ENSP00000482993.1:n.-110-6411A>T
NM_001258357.1:c.-110-6411A>T NP_001245286.1:n.-110-6411A>T
NM_001258358.1:c.-110-6411A>T NP_001245287.1:n.-110-6411A>T
NM_001258359.1:c.-110-6411A>T NP_001245288.1:n.-110-6411A>T
NM_002149.3:c.-110-6411A>T NP_002140.2:n.-110-6411A>T
NM_134421.2:c.-283-6411A>T NP_602293.1:n.-283-6411A>T
XM_005246160.1:c.-111+2614A>T XP_005246217.1:n.-111+2614A>T
XM_005246161.1:c.-283-6411A>T XP_005246218.1:n.-283-6411A>T
XM_005246162.1:c.-286-6411A>T XP_005246219.1:n.-286-6411A>T
XM_005246163.1:c.-284+2614A>T XP_005246220.1:n.-284+2614A>T
XM_011510345.1:c.-111+2614A>T XP_011508647.1:n.-111+2614A>T
XM_011510346.1:c.-110-6411A>T XP_011508648.1:n.-110-6411A>T
XM_011510347.1:c.-380-6411A>T XP_011508649.1:n.-380-6411A>T
XM_011510348.1:c.-283-6411A>T XP_011508650.1:n.-283-6411A>T
XM_011510349.1:c.-110-6411A>T XP_011508651.1:n.-110-6411A>T
XM_011510346.2:c.-110-6411A>T XP_011508648.1:n.-110-6411A>T
XM_011510349.2:c.-110-6411A>T XP_011508651.1:n.-110-6411A>T
XM_017003950.1:c.-111+847A>T XP_016859439.1:n.-111+847A>T
XM_017003951.1:c.-111+847A>T XP_016859440.1:n.-111+847A>T
XM_017003952.1:c.-110-6411A>T XP_016859441.1:n.-110-6411A>T
XM_017003953.2:c.-283-6411A>T XP_016859442.1:n.-283-6411A>T
NM_002149.4:c.-110-6411A>T MANE Select NP_002140.2:n.-110-6411A>T
NM_001258357.2:c.-110-6411A>T NP_001245286.1:n.-110-6411A>T
NM_001258358.2:c.-110-6411A>T NP_001245287.1:n.-110-6411A>T
NM_001258359.2:c.-110-6411A>T NP_001245288.1:n.-110-6411A>T
NM_134421.3:c.-283-6411A>T NP_602293.1:n.-283-6411A>T