Canonical Allele Identifier: CA362798025
Gene: MYLIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16145034T>C , CM000668.2:g.16145034T>C GRCh38
NC_000006.11:g.16145265T>C , CM000668.1:g.16145265T>C GRCh37
NC_000006.10:g.16253244T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356840.8:c.965T>C MANE Select ENSP00000349298.3:p.Val322Ala
ENST00000349606.4:c.422T>C ENSP00000008686.5:p.Val141Ala
ENST00000356840.7:c.965T>C ENSP00000349298.3:p.Val322Ala
NM_013262.3:c.965T>C NP_037394.2:p.Val322Ala
XM_005249032.2:c.800T>C XP_005249089.1:p.Val267Ala
XM_005249033.2:c.422T>C XP_005249090.1:p.Val141Ala
XM_005249033.3:c.422T>C XP_005249090.1:p.Val141Ala
XM_017010789.1:c.965T>C XP_016866278.1:p.Val322Ala
NM_013262.4:c.965T>C MANE Select NP_037394.2:p.Val322Ala