Canonical Allele Identifier: CA362797902
Gene: MYLIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16145014T>G , CM000668.2:g.16145014T>G GRCh38
NC_000006.11:g.16145245T>G , CM000668.1:g.16145245T>G GRCh37
NC_000006.10:g.16253224T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356840.8:c.945T>G MANE Select ENSP00000349298.3:p.Ile315Met
ENST00000349606.4:c.402T>G ENSP00000008686.5:p.Ile134Met
ENST00000356840.7:c.945T>G ENSP00000349298.3:p.Ile315Met
NM_013262.3:c.945T>G NP_037394.2:p.Ile315Met
XM_005249032.2:c.780T>G XP_005249089.1:p.Ile260Met
XM_005249033.2:c.402T>G XP_005249090.1:p.Ile134Met
XM_005249033.3:c.402T>G XP_005249090.1:p.Ile134Met
XM_017010789.1:c.945T>G XP_016866278.1:p.Ile315Met
NM_013262.4:c.945T>G MANE Select NP_037394.2:p.Ile315Met