Canonical Allele Identifier: CA364761062

Gene: MYO6

Linked Data

• COSMIC: COSM6107705 ; COSM6107706
• MyVariant Identifiers: chr6:g.76623792C>T (hg19) ; chr6:g.75914075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914075C>T , CM000668.2:g.75914075C>T	GRCh38
NC_000006.11:g.76623792C>T , CM000668.1:g.76623792C>T	GRCh37
NC_000006.10:g.76680512C>T	NCBI36
NG_009934.1:g.169884C>T
NG_009934.2:g.169883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3356C>T	ENSP00000358992.1:p.Pro1119Leu
ENST00000369977.8:c.3452C>T MANE Select	ENSP00000358994.3:p.Pro1151Leu
ENST00000369985.9:c.3383C>T	ENSP00000359002.3:p.Pro1128Leu
ENST00000664640.1:c.3479C>T	ENSP00000499278.1:p.Pro1160Leu
ENST00000671923.1:c.*1463C>T	ENSP00000500835.1:n.*1463C>T
ENST00000672093.1:c.3452C>T	ENSP00000500710.1:p.Pro1151Leu
ENST00000672162.1:n.1618C>T
ENST00000369975.5:c.3356C>T	ENSP00000358992.1:p.Pro1119Leu
ENST00000369977.7:c.3452C>T	ENSP00000358994.3:p.Pro1151Leu
ENST00000369981.7:c.3482C>T	ENSP00000358998.4:p.Pro1161Leu
ENST00000369985.8:c.3383C>T	ENSP00000359002.3:p.Pro1128Leu
ENST00000615563.4:c.3383C>T	ENSP00000478013.1:p.Pro1128Leu
ENST00000627432.2:c.3479C>T	ENSP00000487348.1:p.Pro1160Leu
NM_001300899.1:c.3383C>T	NP_001287828.1:p.Pro1128Leu
NM_004999.3:c.3452C>T	NP_004990.3:p.Pro1151Leu
XM_005248719.2:c.3479C>T	XP_005248776.1:p.Pro1160Leu
XM_005248720.2:c.3452C>T	XP_005248777.1:p.Pro1151Leu
XM_005248721.2:c.3440C>T	XP_005248778.1:p.Pro1147Leu
XM_005248722.2:c.3425C>T	XP_005248779.1:p.Pro1142Leu
XM_005248724.2:c.3413C>T	XP_005248781.1:p.Pro1138Leu
XM_005248726.2:c.3356C>T	XP_005248783.1:p.Pro1119Leu
XM_005248719.4:c.3479C>T	XP_005248776.1:p.Pro1160Leu
XM_005248720.4:c.3452C>T	XP_005248777.1:p.Pro1151Leu
XM_005248721.4:c.3440C>T	XP_005248778.1:p.Pro1147Leu
XM_005248722.4:c.3425C>T	XP_005248779.1:p.Pro1142Leu
XM_005248724.4:c.3413C>T	XP_005248781.1:p.Pro1138Leu
XM_005248726.4:c.3356C>T	XP_005248783.1:p.Pro1119Leu
XM_017010899.2:c.3386C>T	XP_016866388.1:p.Pro1129Leu
XM_024446447.1:c.3479C>T	XP_024302215.1:p.Pro1160Leu
XM_024446448.1:c.3413C>T	XP_024302216.1:p.Pro1138Leu
NM_004999.4:c.3452C>T MANE Select	NP_004990.3:p.Pro1151Leu
NM_001300899.2:c.3383C>T	NP_001287828.1:p.Pro1128Leu
NM_001368136.1:c.3356C>T	NP_001355065.1:p.Pro1119Leu
NM_001368137.1:c.3413C>T	NP_001355066.1:p.Pro1138Leu
NM_001368138.1:c.3368C>T	NP_001355067.1:p.Pro1123Leu
NM_001368865.1:c.3479C>T	NP_001355794.1:p.Pro1160Leu
NM_001368866.1:c.3452C>T	NP_001355795.1:p.Pro1151Leu
NR_160538.1:n.3681C>T