Canonical Allele Identifier: CA1612565386
Community Standard Title: NM_013262.4(MYLIP):c.1025A= (p.Asn342=)
Gene: MYLIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16145094A= , CM000668.2:g.16145094A= GRCh38
NC_000006.11:g.16145325A= , CM000668.1:g.16145325A= GRCh37
NC_000006.10:g.16253304A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013262.4:c.1025A= MANE Select NP_037394.2:p.Asn342=
ENST00000356840.8:c.1025A= MANE Select ENSP00000349298.3:p.Asn342=
NM_013262.3:c.1025A= NP_037394.2:p.Asn342=
ENST00000349606.4:c.482A= ENSP00000008686.5:p.Asn161=
ENST00000356840.7:c.1025A= ENSP00000349298.3:p.Asn342=
XM_005249032.2:c.860A= XP_005249089.1:p.Asn287=
XM_005249033.2:c.482A= XP_005249090.1:p.Asn161=
XM_005249033.3:c.482A= XP_005249090.1:p.Asn161=
XM_017010789.1:c.1025A= XP_016866278.1:p.Asn342=