Canonical Allele Identifier: CA3644627
Gene: MYLIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1598643
ClinVar RCV Id: RCV002122681
dbSNP Id: rs9370867
gnomAD v2: 6-16145325-A-G
gnomAD v3: 6-16145094-A-G
gnomAD v4: 6-16145094-A-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356840.8:c.1025A>G MANE Select ENSP00000349298.3:p.Asn342Ser
ENST00000349606.4:c.482A>G ENSP00000008686.5:p.Asn161Ser
ENST00000356840.7:c.1025A>G ENSP00000349298.3:p.Asn342Ser
NM_013262.3:c.1025A>G NP_037394.2:p.Asn342Ser
XM_005249032.2:c.860A>G XP_005249089.1:p.Asn287Ser
XM_005249033.2:c.482A>G XP_005249090.1:p.Asn161Ser
XM_005249033.3:c.482A>G XP_005249090.1:p.Asn161Ser
XM_017010789.1:c.1025A>G XP_016866278.1:p.Asn342Ser
NM_013262.4:c.1025A>G MANE Select NP_037394.2:p.Asn342Ser