Canonical Allele Identifier: CA364762013

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914204-A-G
• MyVariant Identifiers: chr6:g.76623921A>G (hg19) ; chr6:g.75914204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914204A>G , CM000668.2:g.75914204A>G	GRCh38
NC_000006.11:g.76623921A>G , CM000668.1:g.76623921A>G	GRCh37
NC_000006.10:g.76680641A>G	NCBI36
NG_009934.1:g.170013A>G
NG_009934.2:g.170012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3485A>G	ENSP00000358992.1:p.Tyr1162Cys
ENST00000369977.8:c.3581A>G MANE Select	ENSP00000358994.3:p.Tyr1194Cys
ENST00000369985.9:c.3512A>G	ENSP00000359002.3:p.Tyr1171Cys
ENST00000664640.1:c.3608A>G	ENSP00000499278.1:p.Tyr1203Cys
ENST00000671923.1:c.*1592A>G	ENSP00000500835.1:n.*1592A>G
ENST00000672093.1:c.3581A>G	ENSP00000500710.1:p.Tyr1194Cys
ENST00000672162.1:n.1747A>G
ENST00000369975.5:c.3485A>G	ENSP00000358992.1:p.Tyr1162Cys
ENST00000369977.7:c.3581A>G	ENSP00000358994.3:p.Tyr1194Cys
ENST00000369981.7:c.3611A>G	ENSP00000358998.4:p.Tyr1204Cys
ENST00000369985.8:c.3512A>G	ENSP00000359002.3:p.Tyr1171Cys
ENST00000615563.4:c.3512A>G	ENSP00000478013.1:p.Tyr1171Cys
ENST00000627432.2:c.3608A>G	ENSP00000487348.1:p.Tyr1203Cys
NM_001300899.1:c.3512A>G	NP_001287828.1:p.Tyr1171Cys
NM_004999.3:c.3581A>G	NP_004990.3:p.Tyr1194Cys
XM_005248719.2:c.3608A>G	XP_005248776.1:p.Tyr1203Cys
XM_005248720.2:c.3581A>G	XP_005248777.1:p.Tyr1194Cys
XM_005248721.2:c.3569A>G	XP_005248778.1:p.Tyr1190Cys
XM_005248722.2:c.3554A>G	XP_005248779.1:p.Tyr1185Cys
XM_005248724.2:c.3542A>G	XP_005248781.1:p.Tyr1181Cys
XM_005248726.2:c.3485A>G	XP_005248783.1:p.Tyr1162Cys
XM_005248719.4:c.3608A>G	XP_005248776.1:p.Tyr1203Cys
XM_005248720.4:c.3581A>G	XP_005248777.1:p.Tyr1194Cys
XM_005248721.4:c.3569A>G	XP_005248778.1:p.Tyr1190Cys
XM_005248722.4:c.3554A>G	XP_005248779.1:p.Tyr1185Cys
XM_005248724.4:c.3542A>G	XP_005248781.1:p.Tyr1181Cys
XM_005248726.4:c.3485A>G	XP_005248783.1:p.Tyr1162Cys
XM_017010899.2:c.3515A>G	XP_016866388.1:p.Tyr1172Cys
XM_024446447.1:c.3608A>G	XP_024302215.1:p.Tyr1203Cys
XM_024446448.1:c.3542A>G	XP_024302216.1:p.Tyr1181Cys
NM_004999.4:c.3581A>G MANE Select	NP_004990.3:p.Tyr1194Cys
NM_001300899.2:c.3512A>G	NP_001287828.1:p.Tyr1171Cys
NM_001368136.1:c.3485A>G	NP_001355065.1:p.Tyr1162Cys
NM_001368137.1:c.3542A>G	NP_001355066.1:p.Tyr1181Cys
NM_001368138.1:c.3497A>G	NP_001355067.1:p.Tyr1166Cys
NM_001368865.1:c.3608A>G	NP_001355794.1:p.Tyr1203Cys
NM_001368866.1:c.3581A>G	NP_001355795.1:p.Tyr1194Cys
NR_160538.1:n.3810A>G