Canonical Allele Identifier: CA6199151

Gene: MYO7A

Linked Data

• dbSNP Id: rs758883288
• ExAC: 11:76925778 C / T
• gnomAD v2: 11-76925778-C-T
• gnomAD v3: 11-77214733-C-T
• gnomAD v4: 11-77214733-C-T
• MyVariant Identifiers: chr11:g.76925778C>T (hg19) ; chr11:g.77214733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77214733C>T , CM000673.2:g.77214733C>T	GRCh38
NC_000011.9:g.76925778C>T , CM000673.1:g.76925778C>T	GRCh37
NC_000011.8:g.76603426C>T	NCBI36
NG_009086.1:g.91469C>T
NG_009086.2:g.91488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.*37C>T MANE Select	ENSP00000386331.3:n.*37C>T
ENST00000670577.1:c.4486C>T
ENST00000409619.6:c.*37C>T	ENSP00000386635.2:n.*37C>T
ENST00000409709.7:c.*37C>T	ENSP00000386331.3:n.*37C>T
ENST00000458169.2:c.4111C>T	ENSP00000417017.2:n.4111C>T
ENST00000458637.6:c.*37C>T	ENSP00000392185.2:n.*37C>T
ENST00000481328.7:n.5235C>T
ENST00000605744.1:n.2199C>T
NM_000260.3:c.*37C>T	NP_000251.3:n.*37C>T
NM_001127180.1:c.*37C>T	NP_001120652.1:n.*37C>T
XM_005274012.2:c.*37C>T	XP_005274069.1:n.*37C>T
XM_006718561.2:c.*37C>T	XP_006718624.1:n.*37C>T
XR_949941.1:n.6979C>T
XM_017017780.1:c.*37C>T	XP_016873269.1:n.*37C>T
XM_017017784.1:c.*37C>T	XP_016873273.1:n.*37C>T
XM_017017788.1:c.*37C>T	XP_016873277.1:n.*37C>T
XR_001747885.1:n.6764C>T
XR_001747887.1:n.6750C>T
NM_000260.4:c.*37C>T MANE Select	NP_000251.3:n.*37C>T
NM_001127180.2:c.*37C>T	NP_001120652.1:n.*37C>T
NM_001369365.1:c.*37C>T	NP_001356294.1:n.*37C>T