Canonical Allele Identifier: CA364761053

Gene: MYO6

Linked Data

• gnomAD v4: 6-75914074-C-A
• MyVariant Identifiers: chr6:g.76623791C>A (hg19) ; chr6:g.75914074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75914074C>A , CM000668.2:g.75914074C>A	GRCh38
NC_000006.11:g.76623791C>A , CM000668.1:g.76623791C>A	GRCh37
NC_000006.10:g.76680511C>A	NCBI36
NG_009934.1:g.169883C>A
NG_009934.2:g.169882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369975.6:c.3355C>A	ENSP00000358992.1:p.Pro1119Thr
ENST00000369977.8:c.3451C>A MANE Select	ENSP00000358994.3:p.Pro1151Thr
ENST00000369985.9:c.3382C>A	ENSP00000359002.3:p.Pro1128Thr
ENST00000664640.1:c.3478C>A	ENSP00000499278.1:p.Pro1160Thr
ENST00000671923.1:c.*1462C>A	ENSP00000500835.1:n.*1462C>A
ENST00000672093.1:c.3451C>A	ENSP00000500710.1:p.Pro1151Thr
ENST00000672162.1:n.1617C>A
ENST00000369975.5:c.3355C>A	ENSP00000358992.1:p.Pro1119Thr
ENST00000369977.7:c.3451C>A	ENSP00000358994.3:p.Pro1151Thr
ENST00000369981.7:c.3481C>A	ENSP00000358998.4:p.Pro1161Thr
ENST00000369985.8:c.3382C>A	ENSP00000359002.3:p.Pro1128Thr
ENST00000615563.4:c.3382C>A	ENSP00000478013.1:p.Pro1128Thr
ENST00000627432.2:c.3478C>A	ENSP00000487348.1:p.Pro1160Thr
NM_001300899.1:c.3382C>A	NP_001287828.1:p.Pro1128Thr
NM_004999.3:c.3451C>A	NP_004990.3:p.Pro1151Thr
XM_005248719.2:c.3478C>A	XP_005248776.1:p.Pro1160Thr
XM_005248720.2:c.3451C>A	XP_005248777.1:p.Pro1151Thr
XM_005248721.2:c.3439C>A	XP_005248778.1:p.Pro1147Thr
XM_005248722.2:c.3424C>A	XP_005248779.1:p.Pro1142Thr
XM_005248724.2:c.3412C>A	XP_005248781.1:p.Pro1138Thr
XM_005248726.2:c.3355C>A	XP_005248783.1:p.Pro1119Thr
XM_005248719.4:c.3478C>A	XP_005248776.1:p.Pro1160Thr
XM_005248720.4:c.3451C>A	XP_005248777.1:p.Pro1151Thr
XM_005248721.4:c.3439C>A	XP_005248778.1:p.Pro1147Thr
XM_005248722.4:c.3424C>A	XP_005248779.1:p.Pro1142Thr
XM_005248724.4:c.3412C>A	XP_005248781.1:p.Pro1138Thr
XM_005248726.4:c.3355C>A	XP_005248783.1:p.Pro1119Thr
XM_017010899.2:c.3385C>A	XP_016866388.1:p.Pro1129Thr
XM_024446447.1:c.3478C>A	XP_024302215.1:p.Pro1160Thr
XM_024446448.1:c.3412C>A	XP_024302216.1:p.Pro1138Thr
NM_004999.4:c.3451C>A MANE Select	NP_004990.3:p.Pro1151Thr
NM_001300899.2:c.3382C>A	NP_001287828.1:p.Pro1128Thr
NM_001368136.1:c.3355C>A	NP_001355065.1:p.Pro1119Thr
NM_001368137.1:c.3412C>A	NP_001355066.1:p.Pro1138Thr
NM_001368138.1:c.3367C>A	NP_001355067.1:p.Pro1123Thr
NM_001368865.1:c.3478C>A	NP_001355794.1:p.Pro1160Thr
NM_001368866.1:c.3451C>A	NP_001355795.1:p.Pro1151Thr
NR_160538.1:n.3680C>A