Canonical Allele Identifier: CA2684804385

Gene: CALU

Linked Data

• gnomAD v4: 7-128759180-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128759180G>C , CM000669.2:g.128759180G>C	GRCh38
NC_000007.13:g.128399234G>C , CM000669.1:g.128399234G>C	GRCh37
NC_000007.12:g.128186470G>C	NCBI36
NG_033110.1:g.24889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449187.7:c.582+143G>C	ENSP00000408838.2:n.582+143G>C
ENST00000542996.7:c.606+143G>C	ENSP00000438248.1:n.606+143G>C
ENST00000249364.9:c.582+143G>C MANE Select	ENSP00000249364.4:n.582+143G>C
ENST00000249364.8:c.582+143G>C	ENSP00000249364.4:n.582+143G>C
ENST00000449187.6:c.582+143G>C	ENSP00000408838.2:n.582+143G>C
ENST00000479257.5:c.606+143G>C	ENSP00000420381.1:n.606+143G>C
ENST00000493278.1:c.76+143G>C
ENST00000535011.6:c.582+143G>C	ENSP00000442110.1:n.582+143G>C
ENST00000542996.6:c.606+143G>C	ENSP00000438248.1:n.606+143G>C
NM_001130674.2:c.582+143G>C	NP_001124146.1:n.582+143G>C
NM_001199671.1:c.606+143G>C	NP_001186600.1:n.606+143G>C
NM_001199672.1:c.606+143G>C	NP_001186601.1:n.606+143G>C
NM_001199673.1:c.582+143G>C	NP_001186602.1:n.582+143G>C
NM_001219.4:c.582+143G>C	NP_001210.1:n.582+143G>C
NR_074086.1:n.308+143G>C
XM_011516588.1:c.360+143G>C	XP_011514890.1:n.360+143G>C
XM_017012659.1:c.129+143G>C	XP_016868148.1:n.129+143G>C
NM_001219.5:c.582+143G>C MANE Select	NP_001210.1:n.582+143G>C
NM_001130674.3:c.582+143G>C	NP_001124146.1:n.582+143G>C
NM_001199671.2:c.606+143G>C	NP_001186600.1:n.606+143G>C
NM_001199672.2:c.606+143G>C	NP_001186601.1:n.606+143G>C
NM_001199673.2:c.582+143G>C	NP_001186602.1:n.582+143G>C
NR_074086.2:n.241+143G>C