Canonical Allele Identifier: CA381939114

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76925659A>C (hg19) ; chr11:g.77214614A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214614A>C , CM000673.2:g.77214614A>C	GRCh38
NC_000011.9:g.76925659A>C , CM000673.1:g.76925659A>C	GRCh37
NC_000011.8:g.76603307A>C	NCBI36
NG_009086.1:g.91350A>C
NG_009086.2:g.91369A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6566A>C MANE Select	ENSP00000386331.3:p.Lys2189Thr
ENST00000670577.1:c.4367A>C
ENST00000409619.6:c.6419A>C	ENSP00000386635.2:p.Lys2140Thr
ENST00000409709.7:c.6566A>C	ENSP00000386331.3:p.Lys2189Thr
ENST00000458169.2:c.3992A>C	ENSP00000417017.2:p.Lys1331Thr
ENST00000458637.6:c.6446A>C	ENSP00000392185.2:p.Lys2149Thr
ENST00000481328.7:n.5116A>C
ENST00000605744.1:n.2080A>C
NM_000260.3:c.6566A>C	NP_000251.3:p.Lys2189Thr
NM_001127180.1:c.6446A>C	NP_001120652.1:p.Lys2149Thr
XM_005274012.2:c.6449A>C	XP_005274069.1:p.Lys2150Thr
XM_006718561.2:c.6452A>C	XP_006718624.1:p.Lys2151Thr
XR_949941.1:n.6860A>C
XM_017017780.1:c.6656A>C	XP_016873269.1:p.Lys2219Thr
XM_017017784.1:c.6539A>C	XP_016873273.1:p.Lys2180Thr
XM_017017788.1:c.6542A>C	XP_016873277.1:p.Lys2181Thr
XR_001747885.1:n.6645A>C
XR_001747887.1:n.6631A>C
NM_000260.4:c.6566A>C MANE Select	NP_000251.3:p.Lys2189Thr
NM_001127180.2:c.6446A>C	NP_001120652.1:p.Lys2149Thr
NM_001369365.1:c.6419A>C	NP_001356294.1:p.Lys2140Thr