Canonical Allele Identifier: CA381950935

Gene: MYO7A

Linked Data

• MyVariant Identifiers: chr11:g.76910800T>C (hg19) ; chr11:g.77199755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.77199755T>C , CM000673.2:g.77199755T>C	GRCh38
NC_000011.9:g.76910800T>C , CM000673.1:g.76910800T>C	GRCh37
NC_000011.8:g.76588448T>C	NCBI36
NG_009086.1:g.76491T>C
NG_009086.2:g.76510T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409709.9:c.4789T>C MANE Select	ENSP00000386331.3:p.Phe1597Leu
ENST00000670577.1:c.2630T>C
ENST00000409619.6:c.4642T>C	ENSP00000386635.2:p.Phe1548Leu
ENST00000409709.7:c.4789T>C	ENSP00000386331.3:p.Phe1597Leu
ENST00000458169.2:c.2218T>C	ENSP00000417017.2:p.Phe740Leu
ENST00000458637.6:c.4675T>C	ENSP00000392185.2:p.Phe1559Leu
ENST00000481328.7:n.2328T>C
NM_000260.3:c.4789T>C	NP_000251.3:p.Phe1597Leu
NM_001127180.1:c.4675T>C	NP_001120652.1:p.Phe1559Leu
XM_005274012.2:c.4675T>C	XP_005274069.1:p.Phe1559Leu
XM_006718558.2:c.4783T>C	XP_006718621.1:p.Phe1595Leu
XM_006718559.2:c.4675T>C	XP_006718622.1:p.Phe1559Leu
XM_006718560.2:c.4675T>C	XP_006718623.1:p.Phe1559Leu
XM_006718561.2:c.4675T>C	XP_006718624.1:p.Phe1559Leu
XM_011545044.1:c.4789T>C	XP_011543346.1:p.Phe1597Leu
XM_011545045.1:c.4783T>C	XP_011543347.1:p.Phe1595Leu
XM_011545046.1:c.4756T>C	XP_011543348.1:p.Phe1586Leu
XM_011545047.1:c.4693T>C	XP_011543349.1:p.Phe1565Leu
XM_011545048.1:c.4564T>C	XP_011543350.1:p.Phe1522Leu
XM_011545049.1:c.4552T>C	XP_011543351.1:p.Phe1518Leu
XM_011545050.1:c.4525T>C	XP_011543352.1:p.Phe1509Leu
XM_011545051.1:c.4789T>C	XP_011543353.1:p.Phe1597Leu
XM_011545052.1:c.4789T>C	XP_011543354.1:p.Phe1597Leu
XR_949938.1:n.5109T>C
XR_949941.1:n.5109T>C
XR_949942.1:n.5111T>C
XM_011545044.2:c.4789T>C	XP_011543346.1:p.Phe1597Leu
XM_011545046.2:c.4879T>C	XP_011543348.2:p.Phe1627Leu
XM_011545050.2:c.4525T>C	XP_011543352.1:p.Phe1509Leu
XM_017017778.1:c.4873T>C	XP_016873267.1:p.Phe1625Leu
XM_017017779.1:c.4873T>C	XP_016873268.1:p.Phe1625Leu
XM_017017780.1:c.4879T>C	XP_016873269.1:p.Phe1627Leu
XM_017017781.1:c.4783T>C	XP_016873270.1:p.Phe1595Leu
XM_017017782.1:c.4765T>C	XP_016873271.1:p.Phe1589Leu
XM_017017783.1:c.4765T>C	XP_016873272.1:p.Phe1589Leu
XM_017017784.1:c.4765T>C	XP_016873273.1:p.Phe1589Leu
XM_017017785.1:c.4642T>C	XP_016873274.1:p.Phe1548Leu
XM_017017786.1:c.4879T>C	XP_016873275.1:p.Phe1627Leu
XM_017017788.1:c.4765T>C	XP_016873277.1:p.Phe1589Leu
XR_001747885.1:n.4894T>C
XR_001747886.1:n.4894T>C
XR_001747887.1:n.4894T>C
XR_001747888.1:n.4894T>C
NM_000260.4:c.4789T>C MANE Select	NP_000251.3:p.Phe1597Leu
NM_001127180.2:c.4675T>C	NP_001120652.1:p.Phe1559Leu
NM_001369365.1:c.4642T>C	NP_001356294.1:p.Phe1548Leu