Canonical Allele Identifier: CA2838357272

Gene: CALN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.72382223A>T , CM000669.2:g.72382223A>T	GRCh38
NC_000007.13:g.71847208A>T , CM000669.1:g.71847208A>T	GRCh37
NC_000007.12:g.71485144A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395275.7:c.119+21028T>A MANE Select	ENSP00000378690.2:n.119+21028T>A
ENST00000395275.6:c.119+21028T>A	ENSP00000378690.2:n.119+21028T>A
ENST00000395276.6:c.-8+29835T>A	ENSP00000378691.2:n.-8+29835T>A
ENST00000431984.5:c.-8+64819T>A	ENSP00000410704.1:n.-8+64819T>A
NM_031468.3:c.119+21028T>A	NP_113656.2:n.119+21028T>A
XM_011516593.1:c.-8+20976T>A	XP_011514895.1:n.-8+20976T>A
XM_011516595.1:c.-8+64819T>A	XP_011514897.1:n.-8+64819T>A
XM_011516598.1:c.-8+20976T>A	XP_011514900.1:n.-8+20976T>A
XM_011516599.1:c.-8+29835T>A	XP_011514901.1:n.-8+29835T>A
NM_001363460.1:c.-8+64819T>A	NP_001350389.1:n.-8+64819T>A
XM_017012675.1:c.119+21028T>A	XP_016868164.1:n.119+21028T>A
XM_017012676.2:c.119+21028T>A	XP_016868165.1:n.119+21028T>A
XM_017012677.1:c.3-103413T>A	XP_016868166.1:n.3-103413T>A
XM_017012678.1:c.-8+29835T>A	XP_016868167.1:n.-8+29835T>A
XM_017012683.1:c.-74-60046T>A	XP_016868172.1:n.-74-60046T>A
NM_031468.4:c.119+21028T>A MANE Select	NP_113656.2:n.119+21028T>A