Canonical Allele Identifier: CA651422312
Gene: CALN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.71923710G>T , CM000669.2:g.71923710G>T GRCh38
NC_000007.13:g.71388695G>T , CM000669.1:g.71388695G>T GRCh37
NC_000007.12:g.71026631G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395275.7:c.501+99947C>A MANE Select ENSP00000378690.2:n.501+99947C>A
ENST00000329008.9:c.375+99947C>A ENSP00000332498.5:n.375+99947C>A
ENST00000395275.6:c.501+99947C>A ENSP00000378690.2:n.501+99947C>A
ENST00000395276.6:c.375+99947C>A ENSP00000378691.2:n.375+99947C>A
ENST00000431984.5:c.375+99947C>A ENSP00000410704.1:n.375+99947C>A
NM_001017440.2:c.375+99947C>A NP_001017440.1:n.375+99947C>A
NM_031468.3:c.501+99947C>A NP_113656.2:n.501+99947C>A
XM_011516593.1:c.375+99947C>A XP_011514895.1:n.375+99947C>A
XM_011516594.1:c.426+99947C>A XP_011514896.1:n.426+99947C>A
XM_011516595.1:c.375+99947C>A XP_011514897.1:n.375+99947C>A
XM_011516596.1:c.375+99947C>A XP_011514898.1:n.375+99947C>A
XM_011516597.1:c.375+99947C>A XP_011514899.1:n.375+99947C>A
XM_011516599.1:c.375+99947C>A XP_011514901.1:n.375+99947C>A
NM_001363460.1:c.375+99947C>A NP_001350389.1:n.375+99947C>A
XM_011516594.3:c.426+99947C>A XP_011514896.1:n.426+99947C>A
XM_011516596.2:c.375+99947C>A XP_011514898.1:n.375+99947C>A
XM_011516597.2:c.375+99947C>A XP_011514899.1:n.375+99947C>A
XM_017012675.1:c.501+99947C>A XP_016868164.1:n.501+99947C>A
XM_017012676.2:c.501+99947C>A XP_016868165.1:n.501+99947C>A
XM_017012677.1:c.384+99947C>A XP_016868166.1:n.384+99947C>A
XM_017012678.1:c.375+99947C>A XP_016868167.1:n.375+99947C>A
XM_017012679.1:c.375+99947C>A XP_016868168.1:n.375+99947C>A
XM_017012680.1:c.375+99947C>A XP_016868169.1:n.375+99947C>A
XM_017012681.1:c.375+99947C>A XP_016868170.1:n.375+99947C>A
XM_017012682.1:c.375+99947C>A XP_016868171.1:n.375+99947C>A
XM_017012683.1:c.375+99947C>A XP_016868172.1:n.375+99947C>A
NM_031468.4:c.501+99947C>A MANE Select NP_113656.2:n.501+99947C>A
NM_001017440.3:c.375+99947C>A NP_001017440.1:n.375+99947C>A