Canonical Allele Identifier: CA381936313

Gene: MYO7A

Linked Data

• gnomAD v4: 11-77211326-G-C
• MyVariant Identifiers: chr11:g.76922371G>C (hg19) ; chr11:g.77211326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77211326G>C , CM000673.2:g.77211326G>C	GRCh38
NC_000011.9:g.76922371G>C , CM000673.1:g.76922371G>C	GRCh37
NC_000011.8:g.76600019G>C	NCBI36
NG_009086.1:g.88062G>C
NG_009086.2:g.88081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.6226G>C MANE Select	ENSP00000386331.3:p.Asp2076His
ENST00000670577.1:c.4027G>C
ENST00000409619.6:c.6079G>C	ENSP00000386635.2:p.Asp2027His
ENST00000409709.7:c.6226G>C	ENSP00000386331.3:p.Asp2076His
ENST00000458169.2:c.3652G>C	ENSP00000417017.2:p.Asp1218His
ENST00000458637.6:c.6112G>C	ENSP00000392185.2:p.Asp2038His
ENST00000481328.7:n.3762G>C
ENST00000526863.2:n.25+415G>C
ENST00000605744.1:n.1693G>C
NM_000260.3:c.6226G>C	NP_000251.3:p.Asp2076His
NM_001127180.1:c.6112G>C	NP_001120652.1:p.Asp2038His
XM_005274012.2:c.6109G>C	XP_005274069.1:p.Asp2037His
XM_006718558.2:c.6217G>C	XP_006718621.1:p.Asp2073His
XM_006718559.2:c.6112G>C	XP_006718622.1:p.Asp2038His
XM_006718560.2:c.6109G>C	XP_006718623.1:p.Asp2037His
XM_006718561.2:c.6112G>C	XP_006718624.1:p.Asp2038His
XM_011545044.1:c.6226G>C	XP_011543346.1:p.Asp2076His
XM_011545045.1:c.6220G>C	XP_011543347.1:p.Asp2074His
XM_011545046.1:c.6193G>C	XP_011543348.1:p.Asp2065His
XM_011545047.1:c.6130G>C	XP_011543349.1:p.Asp2044His
XM_011545048.1:c.6001G>C	XP_011543350.1:p.Asp2001His
XM_011545049.1:c.5989G>C	XP_011543351.1:p.Asp1997His
XM_011545050.1:c.5962G>C	XP_011543352.1:p.Asp1988His
XM_011545051.1:c.6226G>C	XP_011543353.1:p.Asp2076His
XR_949938.1:n.6546G>C
XR_949941.1:n.6520G>C
XM_011545044.2:c.6226G>C	XP_011543346.1:p.Asp2076His
XM_011545046.2:c.6316G>C	XP_011543348.2:p.Asp2106His
XM_011545050.2:c.5962G>C	XP_011543352.1:p.Asp1988His
XM_017017778.1:c.6310G>C	XP_016873267.1:p.Asp2104His
XM_017017779.1:c.6307G>C	XP_016873268.1:p.Asp2103His
XM_017017780.1:c.6316G>C	XP_016873269.1:p.Asp2106His
XM_017017781.1:c.6220G>C	XP_016873270.1:p.Asp2074His
XM_017017782.1:c.6202G>C	XP_016873271.1:p.Asp2068His
XM_017017783.1:c.6199G>C	XP_016873272.1:p.Asp2067His
XM_017017784.1:c.6199G>C	XP_016873273.1:p.Asp2067His
XM_017017785.1:c.6079G>C	XP_016873274.1:p.Asp2027His
XM_017017786.1:c.6316G>C	XP_016873275.1:p.Asp2106His
XM_017017788.1:c.6202G>C	XP_016873277.1:p.Asp2068His
XR_001747885.1:n.6305G>C
XR_001747887.1:n.6291G>C
NM_000260.4:c.6226G>C MANE Select	NP_000251.3:p.Asp2076His
NM_001127180.2:c.6112G>C	NP_001120652.1:p.Asp2038His
NM_001369365.1:c.6079G>C	NP_001356294.1:p.Asp2027His