Canonical Allele Identifier: CA1860759

Gene: MYO7B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127582391C>T , CM000664.2:g.127582391C>T	GRCh38
NC_000002.11:g.128339966C>T , CM000664.1:g.128339966C>T	GRCh37
NC_000002.10:g.128056436C>T	NCBI36
NG_052848.1:g.51703C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001393586.1:c.1288C>T MANE Select	NP_001380515.1:p.Arg430Trp
ENST00000409816.8:c.1288C>T MANE Select	ENSP00000386461.3:p.Arg430Trp
NM_001080527.1:c.1288C>T	NP_001073996.1:p.Arg430Trp
NM_001080527.2:c.1288C>T	NP_001073996.1:p.Arg430Trp
ENST00000409816.6:c.1288C>T	ENSP00000386461.2:p.Arg430Trp
ENST00000428314.5:c.1288C>T	ENSP00000415090.1:p.Arg430Trp
XM_006712539.2:c.1288C>T	XP_006712602.1:p.Arg430Trp
XM_006712539.3:c.1288C>T	XP_006712602.1:p.Arg430Trp
XM_011511218.1:c.1288C>T	XP_011509520.1:p.Arg430Trp
XM_011511218.2:c.1288C>T	XP_011509520.1:p.Arg430Trp
XM_017004169.1:c.1288C>T	XP_016859658.1:p.Arg430Trp
XR_001738748.1:n.1454C>T
XR_001738749.1:n.1454C>T
XR_922927.1:n.1450C>T