Canonical Allele Identifier: CA286816789
Community Standard Title: NM_001080779.2(MYO1C):c.2611-245C>G
Gene: MYO1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1468741G>C , CM000679.2:g.1468741G>C GRCh38
NC_000017.10:g.1372035G>C , CM000679.1:g.1372035G>C GRCh37
NC_000017.9:g.1318785G>C NCBI36
NG_047063.1:g.28967C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001080779.2:c.2611-245C>G MANE Select NP_001074248.1:n.2611-245C>G
ENST00000648651.1:c.2611-245C>G MANE Select ENSP00000496954.1:n.2611-245C>G
NM_001080779.1:c.2611-245C>G NP_001074248.1:n.2611-245C>G
NM_001080950.1:c.2554-245C>G NP_001074419.1:n.2554-245C>G
NM_001080950.2:c.2554-245C>G NP_001074419.1:n.2554-245C>G
NM_001363855.1:c.2539-245C>G NP_001350784.1:n.2539-245C>G
NM_033375.4:c.2506-245C>G NP_203693.3:n.2506-245C>G
NM_033375.5:c.2506-245C>G NP_203693.3:n.2506-245C>G
ENST00000359786.9:c.2611-245C>G ENSP00000352834.5:n.2611-245C>G
ENST00000361007.6:c.2506-245C>G ENSP00000354283.2:n.2506-245C>G
ENST00000361007.7:c.2506-245C>G ENSP00000354283.2:n.2506-245C>G
ENST00000438665.6:c.2554-245C>G ENSP00000412197.2:n.2554-245C>G
ENST00000545534.6:c.2539-245C>G ENSP00000437685.2:n.2539-245C>G
ENST00000570984.7:c.2506-245C>G ENSP00000459271.3:n.2506-245C>G
ENST00000574308.1:n.130-245C>G
ENST00000575158.5:c.2506-245C>G ENSP00000459174.1:n.2506-245C>G
ENST00000646049.1:c.2506-245C>G ENSP00000493973.1:n.2506-245C>G
ENST00000648446.1:c.2554-245C>G ENSP00000496799.1:n.2554-245C>G
XM_024450768.1:c.2506-245C>G XP_024306536.1:n.2506-245C>G
XM_024450769.1:c.2506-245C>G XP_024306537.1:n.2506-245C>G