Canonical Allele Identifier: CA393171448
Gene: LMAN1L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74824365G>C , CM000677.2:g.74824365G>C GRCh38
NC_000015.9:g.75116706G>C , CM000677.1:g.75116706G>C GRCh37
NC_000015.8:g.72903759G>C NCBI36
NG_052659.1:g.16513G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309664.10:c.1338G>C MANE Select ENSP00000310431.5:p.Lys446Asn
ENST00000309664.9:c.1338G>C ENSP00000310431.5:p.Lys446Asn
ENST00000379709.7:c.1302G>C ENSP00000369031.3:p.Lys434Asn
ENST00000565585.5:n.2400G>C
ENST00000566046.1:n.178G>C
ENST00000567848.1:c.243-1111G>C ENSP00000454716.1:n.243-1111G>C
NM_021819.2:c.1338G>C NP_068591.2:p.Lys446Asn
NM_021819.3:c.1338G>C MANE Select NP_068591.2:p.Lys446Asn