Canonical Allele Identifier: CA14428610
Community Standard Title: NM_001080779.2(MYO1C):c.3065+54G>A
Gene: MYO1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1467426C>T , CM000679.2:g.1467426C>T GRCh38
NC_000017.10:g.1370720C>T , CM000679.1:g.1370720C>T GRCh37
NC_000017.9:g.1317470C>T NCBI36
NG_047063.1:g.30282G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080779.2:c.3065+54G>A MANE Select NP_001074248.1:n.3065+54G>A
ENST00000648651.1:c.3065+54G>A MANE Select ENSP00000496954.1:n.3065+54G>A
NM_001080779.1:c.3065+54G>A NP_001074248.1:n.3065+54G>A
NM_001080950.1:c.3008+54G>A NP_001074419.1:n.3008+54G>A
NM_001080950.2:c.3008+54G>A NP_001074419.1:n.3008+54G>A
NM_001363855.1:c.2993+54G>A NP_001350784.1:n.2993+54G>A
NM_033375.4:c.2960+54G>A NP_203693.3:n.2960+54G>A
NM_033375.5:c.2960+54G>A NP_203693.3:n.2960+54G>A
ENST00000359786.9:c.3065+54G>A ENSP00000352834.5:n.3065+54G>A
ENST00000361007.6:c.2960+54G>A ENSP00000354283.2:n.2960+54G>A
ENST00000361007.7:c.2960+54G>A ENSP00000354283.2:n.2960+54G>A
ENST00000438665.6:c.3008+54G>A ENSP00000412197.2:n.3008+54G>A
ENST00000545534.6:c.2993+54G>A ENSP00000437685.2:n.2993+54G>A
ENST00000570984.7:c.2960+54G>A ENSP00000459271.3:n.2960+54G>A
ENST00000575158.5:c.2960+54G>A ENSP00000459174.1:n.2960+54G>A
ENST00000646049.1:c.2960+54G>A ENSP00000493973.1:n.2960+54G>A
ENST00000648446.1:c.3008+54G>A ENSP00000496799.1:n.3008+54G>A
XM_024450768.1:c.2960+54G>A XP_024306536.1:n.2960+54G>A
XM_024450769.1:c.2960+54G>A XP_024306537.1:n.2960+54G>A