Canonical Allele Identifier: CA3830459

Gene: CAPN11 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44158854G>A , CM000668.2:g.44158854G>A	GRCh38
NC_000006.11:g.44126591G>A , CM000668.1:g.44126591G>A	GRCh37
NC_000006.10:g.44234569G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398776.2:c.6G>A (CAPN11) MANE Select	ENSP00000381758.1:p.Leu2=
ENST00000398776.1:c.6G>A (CAPN11)	ENSP00000381758.1:p.Leu2=
ENST00000526118.1:c.6G>A (CAPN11)	ENSP00000431963.1:p.Leu2=
ENST00000532171.5:c.6G>A (CAPN11)	ENSP00000432420.1:p.Leu2=
NM_007058.3:c.6G>A (CAPN11)	NP_008989.2:p.Leu2=
XM_006714984.1:c.6G>A (CAPN11)	XP_006715047.1:p.Leu2=
XM_006714985.1:c.6G>A (CAPN11)	XP_006715048.1:p.Leu2=
XM_006714987.1:c.6G>A (CAPN11)	XP_006715050.1:p.Leu2=
XM_011514275.1:c.-118G>A (CAPN11)	XP_011512577.1:n.-118G>A
XR_926042.1:n.44G>A (CAPN11)
XR_926043.1:n.44G>A (CAPN11)
XR_926044.1:n.44G>A (CAPN11)
XR_001743134.1:n.44G>A (CAPN11)
XR_001743135.1:n.44G>A (CAPN11)
XR_001743136.1:n.44G>A (CAPN11)
NM_007058.4:c.6G>A (CAPN11) MANE Select	NP_008989.2:p.Leu2=
NM_001318876.2:c.946-283036G>A (POLR1C)	NP_001305805.1:n.946-283036G>A