Canonical Allele Identifier: CA362797777

Gene: MYLIP

Linked Data

• gnomAD v4: 6-16144995-A-G
• MyVariant Identifiers: chr6:g.16145226A>G (hg19) ; chr6:g.16144995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16144995A>G , CM000668.2:g.16144995A>G	GRCh38
NC_000006.11:g.16145226A>G , CM000668.1:g.16145226A>G	GRCh37
NC_000006.10:g.16253205A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356840.8:c.926A>G MANE Select	ENSP00000349298.3:p.Lys309Arg
ENST00000349606.4:c.383A>G	ENSP00000008686.5:p.Lys128Arg
ENST00000356840.7:c.926A>G	ENSP00000349298.3:p.Lys309Arg
NM_013262.3:c.926A>G	NP_037394.2:p.Lys309Arg
XM_005249032.2:c.761A>G	XP_005249089.1:p.Lys254Arg
XM_005249033.2:c.383A>G	XP_005249090.1:p.Lys128Arg
XM_005249033.3:c.383A>G	XP_005249090.1:p.Lys128Arg
XM_017010789.1:c.926A>G	XP_016866278.1:p.Lys309Arg
NM_013262.4:c.926A>G MANE Select	NP_037394.2:p.Lys309Arg