Canonical Allele Identifier: CA362797837
Gene: MYLIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16145004T>A , CM000668.2:g.16145004T>A GRCh38
NC_000006.11:g.16145235T>A , CM000668.1:g.16145235T>A GRCh37
NC_000006.10:g.16253214T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356840.8:c.935T>A MANE Select ENSP00000349298.3:p.Val312Asp
ENST00000349606.4:c.392T>A ENSP00000008686.5:p.Val131Asp
ENST00000356840.7:c.935T>A ENSP00000349298.3:p.Val312Asp
NM_013262.3:c.935T>A NP_037394.2:p.Val312Asp
XM_005249032.2:c.770T>A XP_005249089.1:p.Val257Asp
XM_005249033.2:c.392T>A XP_005249090.1:p.Val131Asp
XM_005249033.3:c.392T>A XP_005249090.1:p.Val131Asp
XM_017010789.1:c.935T>A XP_016866278.1:p.Val312Asp
NM_013262.4:c.935T>A MANE Select NP_037394.2:p.Val312Asp