Canonical Allele Identifier: CA498430494
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049305G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145991G>A , CM000679.2:g.18145991G>A GRCh38
NC_000017.10:g.18049305G>A , CM000679.1:g.18049305G>A GRCh37
NC_000017.9:g.17990030G>A NCBI36
NG_011634.1:g.42286G>A
NG_011634.2:g.42286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6393G>A MANE Select ENSP00000495481.1:p.Leu2131=
ENST00000205890.9:c.6393G>A ENSP00000205890.5:p.Leu2131=
ENST00000615845.4:c.6393G>A ENSP00000481642.1:p.Leu2131=
NM_016239.3:c.6393G>A NP_057323.3:p.Leu2131=
XM_011523917.1:c.6333G>A XP_011522219.1:p.Leu2111=
XM_011523918.1:c.6333G>A XP_011522220.1:p.Leu2111=
XM_011523921.1:c.6387G>A XP_011522223.1:p.Leu2129=
XR_934037.1:n.6992G>A
XR_934038.1:n.6992G>A
XM_011523918.2:c.6333G>A XP_011522220.1:p.Leu2111=
XM_017024714.2:c.6333G>A XP_016880203.1:p.Leu2111=
XM_017024715.2:c.6396G>A XP_016880204.1:p.Leu2132=
XM_024450781.1:c.6213+1399G>A XP_024306549.1:n.6213+1399G>A
NM_016239.4:c.6393G>A MANE Select NP_057323.3:p.Leu2131=