Canonical Allele Identifier: CA600344074

Gene: MYO7A

Linked Data

• dbSNP Id: rs1340391121
• gnomAD v2: 11-76925802-A-C
• gnomAD v3: 11-77214757-A-C
• gnomAD v4: 11-77214757-A-C
• MyVariant Identifiers: chr11:g.76925802A>C (hg19) ; chr11:g.77214757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214757A>C , CM000673.2:g.77214757A>C	GRCh38
NC_000011.9:g.76925802A>C , CM000673.1:g.76925802A>C	GRCh37
NC_000011.8:g.76603450A>C	NCBI36
NG_009086.1:g.91493A>C
NG_009086.2:g.91512A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*61A>C MANE Select	ENSP00000386331.3:n.*61A>C
ENST00000670577.1:c.4510A>C
ENST00000409619.6:c.*61A>C	ENSP00000386635.2:n.*61A>C
ENST00000409709.7:c.*61A>C	ENSP00000386331.3:n.*61A>C
ENST00000458169.2:c.4135A>C	ENSP00000417017.2:n.4135A>C
ENST00000458637.6:c.*61A>C	ENSP00000392185.2:n.*61A>C
ENST00000481328.7:n.5259A>C
ENST00000605744.1:n.2223A>C
NM_000260.3:c.*61A>C	NP_000251.3:n.*61A>C
NM_001127180.1:c.*61A>C	NP_001120652.1:n.*61A>C
XM_005274012.2:c.*61A>C	XP_005274069.1:n.*61A>C
XM_006718561.2:c.*61A>C	XP_006718624.1:n.*61A>C
XR_949941.1:n.7003A>C
XM_017017780.1:c.*61A>C	XP_016873269.1:n.*61A>C
XM_017017784.1:c.*61A>C	XP_016873273.1:n.*61A>C
XM_017017788.1:c.*61A>C	XP_016873277.1:n.*61A>C
XR_001747885.1:n.6788A>C
XR_001747887.1:n.6774A>C
NM_000260.4:c.*61A>C MANE Select	NP_000251.3:n.*61A>C
NM_001127180.2:c.*61A>C	NP_001120652.1:n.*61A>C
NM_001369365.1:c.*61A>C	NP_001356294.1:n.*61A>C